Lynch Syndrome Symptoms, Treatment + Guide

Podcast

Author and Contributing Experts to this Guide include:

Lynch Syndrome is a hereditary (genetic) cancer predisposition syndrome that significantly increases the risk of many types of cancers. Here’s what you need to know about this hereditary condition that affects up to 800,000 people in the United States.

What is Lynch Syndrome? 

Lynch Syndrome is often referred to as LS or HNPCC (hereditary nonpolyposis colorectal cancer) and increases the risk of many types of cancers, especially colorectal and uterine cancers.

Colorectal cancer starts in the large intestine (colon) or the rectum (end of the colon).

Other names for Lynch Syndrome include:

  • cancer family syndrome
  • familial nonpolyposis colon cancer
  • hereditary nonpolyposis colorectal cancer
  • hereditary nonpolyposis colorectal neoplasms

Because Lynch Syndrome often runs in families, it's especially important to consider testing for Lynch Syndrome if several family members have cancer, and at least one of them is under 50 years old.

People who have been diagnosed with Lynch Syndrome but who have not developed cancer are known as "previvors." Those who have Lynch Syndrome and have been diagnosed with cancer are called "survivors."

LS patients must be aggressive in their treatments. Early detection is the key because these cancers generally metastasize and travel to other parts of the body through the blood or the lymphatic system.

Cancer cells detach from the primary tumor and burrow through the walls of blood vessels to enter the bloodstream. These cells then exit through blood vessel walls and enter the body in those distant sites. 

Increased Cancer Risks with Lynch Syndrome 

People with LS are at a higher risk than the general population to develop certain types of cancers, and they often occur at an age younger than expected.

These are known as Lynch-related cancers and include:

  • Colon cancer
  • Endometrial cancer
  • Stomach cancer
  • Ovarian and Uterus cancer
  • Gastrointestinal cancer
  • Renal-Pelvic Ureter cancer
  • Bladder cancer
  • Bile Duct cancer
  • Prostate cancer
  • Liver cancer (Hepatocellular cancer)
  • Pancreatic cancer
  • Esophageal cancer
  • Hepatobiliary tract cancer
  • Extrahepatic Bile Duct cancer
  • Brain cancer 
  • Skin cancer (Muir Torre, consisting of sebaceous adenomas, aka gland tumors)
  • Breast cancer (some forms)
  • Prostate cancer

In some cases, benign (noncancerous) tumors may also develop in the colon (colon polyps).

Colorectal cancers are the third most diagnosed type of cancers in the United States, with 150,000 new cases annually. Of these, about one-third of the cases are fatal.

In the general population the average age to develop colon cancer is around 71-years-old. Individuals with Lynch Syndrome have a younger average age of diagnosis of 44-years old. 

“The biggest red flags that come about for Lynch Syndrome are seeing if that particular patient has developed what we call Lynch related cancers. Also, if a particular patient has a look about them that they've developed, perhaps, colon cancer, or rectal cancer, or they have a history of endometrial cancer; most importantly is if they're also developing these cancers at young ages," said Geisinger Medical System’s Dr. Julie Woods, a medical oncologist with a special interest in Lynch Syndrome.

“The median age for somebody to develop colon cancer is actually in their 60s and 70s. So if you're seeing a patient who's developed colon cancer or rectal cancer when they're much younger than that, perhaps in their 20s, 30s, and 40s, that's definitely a red flag for you to think of something like Lynch,” she added.

The second most common cancer associated with Lynch Syndrome is uterine (endometrial) cancer. Women with LS have up to a greater than 70% lifetime risk of developing uterine cancer, compared to 3% for women without LS.

Several types of sarcomas (cancers that start in bones or soft tissues of the body, including cartilage, fat, muscles, fibrous tissues, etc.) have been reported in people with a pathogenic variant. This suggests that sarcomas may be part of the Lynch Syndrome spectrum, but because these instances are rare, researchers have not been able to gather a large body of research on the correlation.

Adrenocortical carcinoma (ACC) is a rare disease where cancer cells form in the outer layer of the adrenal gland and may take place at a higher incidence due to Lynch Syndrome. 

Causes of Lynch Syndrome 

Germline variants (meaning changes that someone is born with) in the MLH1MSH2MSH6PMS2, or EPCAM genes that increase the risk of developing Lynch Syndrome.

The MLH1MSH2MSH6, and PMS2 genes (collectively known as the mismatch repair or MMR genes) help to repair errors that take place when DNA is copied in preparation for cell division (DNA replication).

When these genes have a pathogenic variant that causes them to not function correctly, DNA replication errors can’t be fixed. As abnormal cells keep dividing, the errors keep replicating.

This can lead to uncontrolled cell growth and, in some cases, that can lead to cancer.

The EPCAM gene also is involved with DNA repair. Harmful changes in EPCAM cause the MSH2 gene to be turned off (known as epigenetic silencing of MSH2), and that is what leads to the buildup of DNA errors.

“For a long time in the genetics community, we only knew about two genes, then we knew about three, and now we know about five. So I actually have quite a number of patients who I met with in the early 2010s who had genetic testing, and maybe were negative for Lynch Syndrome,” said Heather Rocha, a genetic counselor from Danville, Pennsylvania.

“But when we look at the family tree and see this entire pattern of cancers, colon, endometrial, ovarian, pancreas, things like that, if we look at the family tree they say, "That really looks like Lynch, how come we didn't find that 'pathogenic variant?'" It's because they didn't have enough genetic testing,” added Rocha.

There is also a possible LS association with three other genes. They are the MLH4, PMS1, and EXO1 genes.

It should be noted that although pathogenic variants in these genes increase the likelihood of cancer, not all people who carry these variants develop Lynch cancers. The level of cancer risks varies among the genes that are associated with Lynch Syndrome.

Family History Diagnosis of Lynch Syndrome

There are two primary ways that Lynch Syndrome is diagnosed. The first is an extensive review of a family history, followed by genetic testing.

A family history is critical in the diagnosis of Lynch Syndrome. Obtaining a comprehensive, documented family history as early as possible can best position a patient and his or her doctor to administer life-saving prevention measures.

If the family medical history shows three family members who have had a Lynch Syndrome-related cancer (two of those directly related to a third), then genetic testing should be strongly considered.

“When I order a genetic test, I think about, "Who in the family is going to give me the best possible information to make that diagnosis?” said Rocha.

“Just because you have a family history of suggestive cancer doesn't mean it's Lynch and doesn't mean you have it. I think about a lot of things when I meet with somebody to talk through that so that we're getting the most accurate information for the entire family.

“Just because somebody has multiple relatives with that type of cancer in their family doesn't necessarily mean it's got to be a hereditary predisposition," she added.

When a genetic counselor gathers a family history, they will often ask several questions related to the health of family members. They will first ask questions to understand the size of your family, “How many children, siblings, aunts/uncles.” They will ask about ages of family members and their general health.

Cancer genetic counselors will ask about types of cancer that are in the family, how old someone was when they were diagnosed, if they had any environmental exposures, any surgeries, and how old that family member is currently. They are able to use all of this information to better understand your family’s health history and see if they are suspicious of any underlying genetic condition that might explain the cancers in the family. 

Environmental factors play a significant role in how cancers develop and can help provide clues as to whether the cancer developed due to underlying genetic risk or due to environmental risks. It is not surprising to see a combination of environmental and genetic risk factors contributing to cancer development.

You will need to ask your parents, grandparents, brothers and sisters, nieces and nephews, and others about their health history. Every answer is part of a puzzle that needs to be pieced together to provide you with a targeted and personalized plan.

Be sure to find out how relatives passed away and at what age. This information is not always readily available, so you may have to dig around to get the answers you need.

Genetic counselors can use your family history information, cancer screening history (such as colonoscopies), and demographic information (age, sex, ethnicity) to provide a risk estimate to have an underlying genetic condition. Based on your family history, personal medical history, and/or risk score, genetic testing might be offered to see if you have an underlying difference in a gene related to the cancer in your family. 

A family medical history can’t predict your future health, but it can tell you if you’re at risk for various diseases and chronic conditions.

The Office of the United States Surgeon General has a computerized program for the convenience of individuals to complete. It can be printed and provided to health care providers for assessment of not only Lynch Syndrome but all hereditary disorders.

Who Should Get a Genetic Cancer Screening Test?

If you have a family history that puts you at risk for cancer, you should consult with a genetic counselor who will be able to identify all risk factors that could put you at a higher risk for LS or other hereditary cancer syndromes.

Increased risk factors include:

  • Several family members with cancer
  • Family member cancer diagnosed at an unusually young age (Typically less than 50)
  • Several different types of cancer in the same person
  • Cancer in both organs in a paired set, such as both kidneys or breasts 
  • Many first-degree relatives (the parents, siblings, or children of an individual) have the same type of cancer
  • Unusual cases of a specific cancer type (i.e., breast cancer in a male)
  • The presence of birth defects known to be associated with inherited cancer syndromes
  • Being a member of a racial or ethnic group that is known to have an increased risk of having a specific inherited cancer susceptibility syndrome

Lynch Syndrome is inherited in an autosomal dominant manner, this means that only one of the two copies of a Lynch Syndrome gene need to be not working for someone to be at an increased risk. If a family member tests positive for LS, then other immediate family members (children, siblings, parents) should consider testing as well as they have a 50% to also carry the same genetic difference.

It’s better to know risks ahead of time to have the best possible chance of preventing cancer in the future. 

Genetic testing can take place either for a single gene or for a full panel of genes. You will need to discuss your options with a genetic counselor to arrive at the best tests for your situation.

In some rare cases, more comprehensive genomic testing, including exome sequencing and genome sequencing, may be considered.

Testing usually takes place with a simple blood draw, but sometimes a swab from inside the check may be sufficient. Tests are sent to a lab, which then returns the test results to the doctor anywhere from 2 to 3 weeks in most cases.

"Through that blood test, we are looking for mutations in particular genes that we know to be associated with Lynch Syndrome. And if we find them, and a person fits the characteristics, either because of their family history, or their personal history of cancer, then we can make the diagnosis of Lynch Syndrome," said Dr. Woods.

If the genetic tests are deemed necessary, they will be covered by insurance in most cases. Be sure to check your health coverage in advance to avoid any surprises.

Test results will either be positive, meaning a harmful variant was identified in one or more of the tested genes, negative meaning that no harmful variant was identified, or a variant of uncertain significance (VUS). A variant of uncertain significance can be viewed as an inconclusive result.

Everyone has many genetic variants, that is why no one is exactly the same. Sometimes a lab will identify a variant and be unable to tell if this is a benign difference seen in the general population or something that could contribute to disease.

In these cases, physicians will treat a VUS like a negative result. Think innocent until proven guilty. As further research and information is identified about that variant, laboratories will update its status, either upgrading it to a positive result or downgrading it to a negative result.

If the status of your variant changes then the laboratory will identify the order provider who will inform you of any changes. Keep in mind that a negative result does not rule out an underlying genetic syndrome, as it could mean that further testing is needed. 

Genetic tests are extremely accurate but also limited to the amount of data and research available at the time the test is performed. As science continues to advance, testing can become more refined.

Prevalence and Risk Factors of Lynch Syndrome 

About 140,000 new cases of colorectal cancer are diagnosed in the United States each year. About 3-5% of these cases are caused by Lynch Syndrome.

There does not appear to be an added prevalence along with gender, ethnic, or cultural lines.

Some researchers believe that as many as one million people may have Lynch Syndrome, but only about 5% of those people are currently diagnosed.

Signs and Symptoms of Lynch Syndrome 

Lynch Syndrome should be suspected if the following signs and symptoms are present:

  • A personal diagnosis of colorectal cancer (CRC) or endometrial cancer along with one or more of the following:
    • Colorectal or endometrial cancer diagnosed before age 50 years
    • Diagnosis of other Lynch Syndrome Related Cancer - colorectal, endometrial, stomach, small intestinal, hepatobiliary, renal pelvic, ureteral
    • Microsatellite instability (MSI) testing showing that tumor tissue (e.g., colon, endometrial) is MSI-high.
    • Tumor tissue (e.g., colon, endometrial) immunohistochemistry (IHC) demonstrates loss of expression of one or more of the mismatch repair (MMR) gene products: MSH2, MLH1, MSH6, and PMS2
    • At least one first-degree relative with any Lynch Syndrome-related cancer diagnosed before age 50 
    • At least two first-degree relatives with any Lynch Syndrome-related cancers regardless of the age of cancer diagnosis
  • A family member with colorectal or endometrial cancer who meets one of the above criteria.
  • A family member with a confirmed diagnosis of Lynch Syndrome

“A physician or community practitioner might consider Lynch Syndrome as a diagnosis through the early onset of colon cancer. And early onset, to me, means 45 years of age or younger. It’s the same idea with early-onset endometrial cancer or uterine cancer,” said Rocha.

“A pattern of the colon and endometrial cancers in a family would suggest Lynch Syndrome to me. I typically look to see if it is happening in more than one generation. Are we seeing it in grandparents, parents, and then children? Is it happening across siblings?” she added.

Cancer Prevention and Management of Lynch Syndrome 

After an initial diagnosis is made, aggressive screening and testing measures should be implemented, along with consultations with a clinical geneticist or genetic counselor.

“There are a lot of things a patient with Lynch is going to need to do. One of the first things I would recommend is talking to their healthcare provider, somebody that they trust, that can refer them to a clinic like mine.

“We have experts on the management of Lynch Syndrome so they can sit down and meet with a team. Or if their doctor is familiar with Lynch Syndrome that can guide them in the right direction, because there are a lot of screenings that are necessary for somebody with Lynch Syndrome,” said Dr. Woods.

That’s a sentiment echoed by Rocha.

“It's really important that people who have Lynch Syndrome connect with a genetics professional, or a very informed physician, or a team of physicians who understand those nuances between Lynch syndrome. That’s because we can alter someone's management plan based on the exact variant that's been identified in somebody,” she said.

If colon cancer is suspected, a full analysis of tumor tissue should take place. But if there are several indicators that LS is present, getting genetic testing done as soon as possible is vital to allow time for surgical planning or other courses of treatment.

After a woman’s childbearing is completed, a prophylactic hysterectomy and bilateral salpingo-oophorectomy should be considered. These procedures drastically reduce the risk for uterine and ovarian cancer. Removing the ovaries even decreases the risk for breast cancer. 

Regular colonoscopies are an effective preventative treatment for colorectal cancer, so removal of the colon before cancer developing is not recommended if you have been diagnosed with Lynch Syndrome. However, precancerous polyps should be removed every one to two years, beginning between 20 and 25 years old for any person diagnosed with LS. 

"Oftentimes, we will make sure a patient with Lynch Syndrome is seeing a urologist to talk about their risk related to cancers of the bladder, the kidneys, the urinary ducts, and screening them for any place where cancer might be in that area," said Dr. Woods.

Females should be educated about endometrial cancers and what symptoms to look for. This includes abnormal uterine bleeding and postmenopausal bleeding.

Biopsies every two years may be considered, but their effectiveness has not been fully confirmed for early detection. 

Women should also be educated on symptoms of ovarian cancer. These symptoms include pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, early satiety, urinary frequency, or urgency.

Screening recommendations for gastric and duodenal cancers vary. Studies have not shown screening improves early detection or outcomes of these cancers.

However, stomach and duodenum cancers are the two most common non-gynecologic cancers in Lynch Syndrome. Periodic upper endoscopy exams may be a cautious route to take.

Often times, upper endoscopies and colonoscopies can be performed in the same visit which decreases the number of doctor appointments for patients with LS. 

An annual urine analysis should take place beginning between ages 30 and 35. This is used to screen for genitourinary cancers. 

People with LS might also consider an annual central nervous system examination beginning at age 25 to 30.

Screenings for other types of cancers should be dependent on individual family histories, and a course of treatment should be adjusted to individual situations.

Contact your doctor immediately if you notice any of the following symptoms:

  • Black, tar-like stools
  • Blood during a bowel movement
  • Change in bowel habits
  • Unexplained weight loss

Rocha also offered a practical piece of logistical advice.

“If you have Lynch Syndrome, the best thing you can do for yourself is time all of your screening procedures together at the same time of year. It can be overwhelming, and it’s just best to try and group everything together to get them out of the way.

“It’s also good to know that every program and every physician with the guidelines that exist now, do not follow hard and steady recommendations that, ‘You must do this every year, you must do that every year,’” she said.

Other Causes of Colorectal Cancer

Lynch Syndrome is just one of the many causes of colon cancer, accounting for roughly 3-5% of colorectal cancer. Almost all colon cancers begin as noncancerous (benign) polyps, and slowly develop into cancer.

This is why undergoing colonoscopies beginning at age 50-years-old (for the general population) is critical. If a polyp is identified during a colonoscopy it can be removed and biopsied.

Removing polyps from the colon is a great way to monitor the health of your colon and reduce your risk to develop cancer. 

You’re at a higher risk for developing colon cancer if: 

  • Are older than 60
  • Are African American or of Eastern European descent
  • Eat a lot of red or processed meats
  • Have colorectal polyps
  • Have inflammatory bowel diseases such as Crohn disease or ulcerative colitis.
  • Have a family history of colon cancer
  • Smoke cigarettes 
  • Drink alcohol

The Prognosis of Lynch Syndrome 

The prognosis and life expectancy of a person with Lynch Syndrome will depend to some degree on how closely they continue to be monitored after initial diagnosis.

Early detection is the best way to treat Lynch cancers, and while no cure is guaranteed, hyper-vigilance gives a person the best chance of survival.

When treated at an early stage, many people survive at least five years after a cancer diagnosis. This is called the 5-year survival rate and is one of the measures used to gauge whether or not a cancer is cured.

Stages I, II, and III cancers are considered possibly curable. In most cases, stage IV cancer is not considered curable, although there are exceptions. Proper screening and management allow physicians to identify cancer when it is still in its early stages, increasing treatment options and patient outcomes. 

What to do Next: Living with Lynch Syndrome

Genetic Counselors and Physicians can create a plan to help a person live with a diagnosis of LS.

Family planning is a prime consideration for many people. The best time to determine if there is a LS risk is through prenatal testing before pregnancy.

This way, you can make the best informed choice to proceed with a family or not.
 

If one family member is diagnosed with LS, it is advisable to undertake predictive testing for at-risk relatives and immediate family members. This is the best way to ensure early diagnosis and effective treatment measures can be implemented.

If family members are not interested in having genetic testing to confirm their risk, it is recommended that they follow screening and management recommendations as if they were positive. This ensures that if there is an underlying risk, they are being appropriately followed. 

In general, genetic testing for Lynch syndrome is not recommended for children younger than age 18 years. However, testing should be considered if there is a history of early-onset cancer in the family. 

Perhaps the best advice on how to live with Lynch Syndrome was offered by Dr. Woods.

“I make sure I let every person I meet with Lynch Syndrome know that Lynch Syndrome is not a death sentence. It is not a guarantee that you will leave with cancer. In fact, we know that some studies have shown that patients who have received appropriate screening can have as healthy of lives as their family members who haven't been diagnosed with Lynch Syndrome.”

Resources

Here are several organizations that can provide you with critical information on Lynch Syndrome and Lynch cancers. 

Lynch Syndrome International

Box 5456

Vacaville CA 95688

Phone: 707-689-5089

Email: info@lynchcancers.com

Lynch Syndrome International

Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA)

www.cgaicc.com

Hereditary Colon Cancer Takes Guts

www.hcctakesguts.org

National Cancer Institute (NCI)

6116 Executive Boulevard

Suite 300

Bethesda MD 20892-8322

Phone: 800-422-6237 (toll-free)

Email: cancergovstaff@mail.nih.gov

Genetics of Colorectal Cancer (PDQ®)

American Cancer Society (ACS)

250 Williams Street Northwest

Atlanta GA 30303

Phone: 800-227-2345 (toll-free 24/7); 866-228-4327 (toll-free 24/7 TTY)

www.cancer.org

C3: Colorectal Cancer Coalition

1414 Prince Street

Suite 204

Alexandria VA 22314

Phone: 877-427-2111 (toll-free); 703-548-1225

Fax: 202-315-3871

Email: info@fightcolorectalcancer.org

www.fightcolorectalcancer.org

Colon Cancer Alliance (CCA)

1200 G Street Northwest

Suite 800

Washington DC 20005

Phone: 877-422-2030 (Toll-free Helpline); 202-434-8980

Fax: 866-304-9075 (toll-free)

www.ccalliance.org

Prospective Registry of MultiPlex Testing (PROMPT)

PROMPT is an online research registry for patients and families who have undergone multiplex genetic testing and were found to have a genetic variation that may be linked to an increased risk of having cancer.

Lynch Syndrome International also has a comprehensive Assistance Organizations page that will provide you with dozens of support group organizations that may be appropriate for your particular situation. You can access the page here.  

Transcript

Brenna: You're listening to The Rare Disease Connection, a production of aspecthealthandraredisease.com. In 2019 over 145,000 individuals were diagnosed with colorectal cancer in the United States alone. Approximately one in 22 men, and one in 24 women will be diagnosed with colorectal cancer sometime in their lifetime. With numbers like that, it's likely that you know someone with colon cancer. About 10 to 15% of colorectal cancer is due to an underlying hereditary factor. This means that there's a genetic difference which has placed those individuals are higher risk to develop cancer. Brenna: Today we're going to talk about a rare hereditary predisposition syndrome called Lynch Syndrome. If you or someone you love is affected by this condition, you likely have more questions than answers; and that's why we're here. Brenna: Rare Disease Connection and our additional resources on raredisease.com and yourdna.com brings people together whose expertise can explain what you're facing. From diagnosis, to prognosis, to treatment options, all the way to questions like, "Who do I talk to you and where are the people who've been through this before?" You'll find those answers here. From doctors, geneticists, academics, genetic counselors, patient organizations, other patients, and their families, they're all within your reach, and we're here to connect you. This is Rare Disease Connection. Brenna: Hi everyone this is Brenna, co-host of Rare Disease Connection, and Director of Patient Education at yourdna.com. I'm excited today to introduce you to the experts in Lynch Syndrome. Before we get started, you should know that this podcast is just the beginning. Brenna: We have taken the information from this podcast and added additional resources, explanations, links, and references all for you and a downloadable guide. You can get your free copy by going to raredisease.com/lynch, that's raredisease.com/lynch. So let's dig in. Our first conversation is with Heather Rocha, a licensed genetic counselor in Danville, Pennsylvania. Welcome Heather. Heather Rocha: My pleasure. My name is Heather Rocha, I am a genetic counselor at Geisinger in Central Pennsylvania. I spend most of my work here as a cancer genetic specialist, so I get to offer genetic testing to patients who have a family history suggestive of hereditary cancer risk, and I get to work with lots of fantastic physicians here at Geisinger in our oncology program. Brenna: Wonderful. So with that cancer background, I'm sure you've seen a Lynch patient or two? Heather Rocha: Maybe one. Brenna: So, yeah, speaking from your experience as a genetic counselor, what immediately comes to your mind when you hear Lynch Syndrome? Heather Rocha: Yeah, when I hear Lynch Syndrome I think, "My gosh, that's my favorite thing to talk about." But in all honesty with Lynch Syndrome, it's something that I think of that is one more, common than you think. The population prevalence that's been quoted at this point, and I feel like I'm always surprising our physician colleagues when I remind them, "These people are not rare, they're in your clinics." Heather Rocha: We all know somebody who has Lynch Syndrome and hopefully they know it. But the population prevalence now is being quoted as one in 279, which I know 279 people, and I know a lot of people with Lynch Syndrome here at Geisinger that we help take care of. But the second thing that comes to mind when I think about Lynch Syndrome is that sometimes it can be scary, unclear, and the navigation of the medical world can sometimes feel uncertain. Brenna: I think that's fair. So I guess sort of going back to the basics and thinking about the genetics behind Lynch Syndrome, what's actually occurring, genetically, that causes this syndrome? Heather Rocha: Yeah, so in genetics we use a specific term called a pathogenic variant, and I know that sounds very scary, but it means essentially there's some trait that's been inherited in a family that causes an increased risk for specific types of cancers. Heather Rocha: And those specific cancers can include things like colorectal, endometrial, [inaudible 00:04:36] is uterine. We can see risk for ovarian and other gastrointestinal cancers like stomach or small bowel, as well as genital urinary tumors. So things of the like urinary tract system, the kidneys, and we do see some skin involvement as well; we can talk about that for those who stay tuned the whole time. Brenna: So what are the genes specifically that cause Lynch Syndrome, and is it more than one, is it just one gene? Heather Rocha: Yeah so for a long time in the genetics community, we only knew about two genes, then we knew about three, and now we know about five. So I actually have a quite a number of patients who I met with in the early 2010s who had genetic testing, and maybe were negative for Lynch Syndrome. Heather Rocha: But when we look at the family tree and see this entire pattern of cancers, colon, endometrial, ovarian, pancreas, things like that, if we look at the family tree they say, "Man that really looks like Lynch, how come we didn't find that 'pathogenic variant?'" It's because they didn't have enough genetic testing. Heather Rocha: So, essentially, now we know there's five genes that cause Lynch and within the genetics community, one question, "Could there be others that we don't know about yet?" And I will certainly raise my eyebrow to that question and say, "I think there may be other genes, but we really don't know what they are." Heather Rocha: But each of these different genes within Lynch Syndrome, so it MLH1, MSH2, MHS6, PMS2, and EPCAM. Each of these genes, when there is a variation in them that causes disease, [inaudible 00:06:07] does cause a varying level of cancers for each one. Heather Rocha: So in the Heather Rocha school of thought we, in clinic, I describe to patients that we have classic Lynch Syndrome and Lynch light. So Lynch light, I describe it really as these same cancers exist in terms of risk, so everybody who has Lynch has risk for the same types of cancers, it's just what's the degree of that risk? Heather Rocha: So classic Lynch Syndrome is what we've known about for the longest, and that's with the MLH1 and MSH2 genes. And then EPCAM is a ... I'll call it a friend of MSH2; it's a very close relationship of that gene. And then MSH6 and PMS2, we've seen a smaller degree of risk, but still for the same cancer types. Brenna: Yeah, so it sounds like it can really range depending on which gene this pathogenic variant is found in? Heather Rocha: Yeah and, in my opinion, that's why it's really important that people who have Lynch Syndrome connect with a genetics professional, or a very informed physician, or a team of physicians who understand those nuances between Lynch Syndrome, because we can alter someone's management plan based on the exact variant that's been identified in somebody. Heather Rocha: So if a patient has never had genetic testing, or if you're just finding out you have Lynch Syndrome, then it's really important to work with somebody to understand what are my gene related risks? Not what are the overall interests. Brenna: Yeah, I think that's really great advice. So I know you've already mentioned that this condition is a lot more common than a lot of people think, but are there certain populations or demographics that might be more likely to develop Lynch Syndrome? Heather Rocha: So I've seen Lynch Syndrome in people of all ethnicities, all backgrounds, all ages, from all over the country. In Central Pennsylvania where I live and work, I've seen a particular ... We call it founder mutation, so just a very common mutation that we know happened in someone's ancestor years, and years, and years ago. Heather Rocha: I don't think that everybody who has this mutation is directly related in our community but, essentially, there's this founder mutation. This MSH2 [942+32T 00:08:11], that's something that we know is very common in this population. Brenna: So we've talked now about what causes Lynch Syndrome, but let's talk about how someone actually gets a diagnosis of this condition. What in a family makes a physician or a genetic counselor suspicious of Lynch Syndrome, and are there certain types of cancers that you look for, or a certain age that these people were diagnosed? Heather Rocha: Yeah, that's a very important thing to think through. So being a genetic counselor, I'm trained to be a detective and look at somebody's family tree, an extensive family tree and say, "Is there a specific pattern to cancer diagnoses in this family that makes me think of Lynch Syndrome?" Heather Rocha: So the common reasons that a physician, or community practitioner might consider Lynch Syndrome as a diagnosis for a family would be early onset colon cancer. And early onset, to me, means 45 years of age or younger; same idea with endometrial cancer, uterine cancer, early onset. Heather Rocha: But a pattern of colon and endometrial cancers in a family would be suggested to me, I typically look to see is it happening in more than one generation, are we seeing it in grandparents, parents, and then children, is it happening across siblings? Heather Rocha: So this Lynch Syndrome, the genetic variants with Lynch Syndrome can cau- ... I guess they're inherited at 50/50 chance to each child in a family. So if I'm seeing it in multiple siblings, and I'm thinking, "Yeah that tracks with this 50/50 concept, so maybe that's what's going on here." I do look for other rare cancers like ovarian, pancreas, small bowel in families to really get a clue for could it be Lynch or maybe something different? Heather Rocha: Another thing that I think about with Lynch Syndrome is that maybe somebody is diagnosed with cancer at an older age, but through their medical system, or through their healthcare providers they've had screening of the tumor. And this is a pretty standard process at many, many medical centers across the country. Heather Rocha: But we pick up a lot of folks where they've had a 'screen positive' result on studies on their tumor, and then that sends them to cancer genetics like a program like ours to do an evaluation for Lynch Syndrome, or do that diagnostic testing for Lynch Syndrome. Brenna: And what does that diagnostic testing look like exactly? Heather Rocha: Well if you come to see me in our clinic at Geisinger, we order either blood or saliva testing. One tube of blood, around two teaspoons of saliva in that testing; takes a couple of weeks to come back. But it's an analysis of these five genes related to Lynch Syndrome to say, "Is this pattern of cancers in the family tree, is this in line with Lynch Syndrome?" Heather Rocha: So when I order a genetic test, I think about, "Who in the family is going to give me the best possible information to make that diagnosis?" So just because you have a family history of suggestive cancers; one, doesn't mean it's Lynch, and two, doesn't mean you have it. So I think about a lot of things when I meet with somebody to talk through that so that we're getting the most accurate information for the entire family. Heather Rocha: So if you're unaffected, if you've never had cancer, but you're questioning a family history, it's worthwhile to see sort of a genetics practitioner to understand what are your testing options, how broad do we need to go with a genetic test to understand what type of inherited cancer risk, if any, even exists in your family. Heather Rocha: And it's also important to recognize too that colon cancer is a common cancer, endometrial cancers are common cancers. So just because somebody has multiple relatives with that type of cancer in their family doesn't necessarily mean it's got to be a hereditary predisposition. So that's something we also talk about in our cancer genetics program when we're doing a real risk assessment for somebody, that maybe all of this is sort of coincidence, lifestyle factors that contributed to something that looks like Lynch, but isn't Lynch. Brenna: So let's say that there is a hereditary predisposition, that someone does have a diagnosis of Lynch Syndrome, does this mean they're definitely going to get cancer? Heather Rocha: The Heather answer is absolutely not. What we talk about with genetic risk is the same as ... I compare it to any other type of risk factor, so these are risk genes not guaranteed genes; that's something that we say all the time in our program. But just because you're at higher risk doesn't mean it's absolutely going to happen. Heather Rocha: One thing I think of is like the population of people who smoke cigarettes. Everyone knows that smoking cigarettes increases your risk for cancer, but if you think about everybody that's ever smoked cigarettes throughout their entire lifetime ... My grandmother lived to be 90 years old, smoked cigarettes how many times a day for her entire life, never develop cancer. That's a perfect demonstration of that's an increase in risk, but doesn't guarantee that cancer will ever happen. So your genes kind of it's the same concept as if you had other activities, behaviors, etc., that could have increased your risk in other ways. Brenna: So the genes aren't the destiny, just a player? Heather Rocha: Exactly. And that can be really difficult for patients to reconcile; and even myself. When I first started working with patients who have Lynch Syndrome, I kept thinking, "Oh my God, this is the most overwhelming diagnosis." Think of all the imaging, and the biochemical studies, and the lab work they need to get done. Heather Rocha: But the more and more patients I met, and the more and more people who engaged in their screening protocol that was recommended for them, more people I saw not actually getting cancer every single year. So it really is you need to have some time to let the diagnosis sink in with you, and learn from other people, hear from other people. And no, it is definitely not a destiny like you said. Brenna: So if someone comes and sees you, and it turns out that they do have a gene for Lynch Syndrome, or a change in that gene for Lynch Syndrome, then who else should be tested in the family? Heather Rocha: All their closest relatives. So the first thing I like to do is figure out: one, how many siblings do you have, are your parents willing to be tested? So if you have been diagnosed with Lynch Syndrome, the most important thing you can do is tell your brothers and sisters; they are all at 50% risk. Heather Rocha: And then, ideally, I'd go back and say, "All right, are your mom and dad willing and able to get genetic testing so we can figure out on which side of the family did this come from, and who else might be at risk?" So those are two big important factors that I think about. Heather Rocha: The next generation, we do think about genetic testing although it's age dependent, and really I would recommend making sure you work with somebody who's really used to work with adolescents, young adults, etc., so that you can help time the tests in a way that's going to make sense for that individual person who's having testing. Heather Rocha: I mean, imagine being 19 years old, having a genetic test, finding out you're going to have some potential cancer risk in your future, but we're not going to do anything about it right now. So those are things that you want to have a conversation about, but not necessarily act on immediately. Brenna: A lot of factors that would go into considering who should be tested and when? Heather Rocha: Mm-hmm (affirmative). In thinking about who should be tested, I've even seen some really interesting scenarios here where we have a population screening program called MyCode, and it's any patient who comes to our hospital system can participate in this genetic study. And as a sort of bonus as participation in contributing to research, you can learn about these significant genetic variants that might impact your risk for cancer. Heather Rocha: So we have a patient who learned about Lynch Syndrome through our population screening program, and then I got a referral for her mom a couple years later, actually it was about two years later. The patient we found through the population health program had an MSH6 variant. I tested her mom, when I met with her mom, who had colorectal and endometrial cancer, I said, "You know, I'm pretty convinced it's going to be Lynch Syndrome in you, this MSH6 mutation or a variant, here's all what you need to know about it." Heather Rocha: Well Lynch Syndrome is so common that, lo and behold, I get mom's test result back, and she actually has a PMS2 variant. The MSH6 variant was inherited from the patient's father's side of the family who really didn't have a significant cancer history. So it was really interesting to see that, even in the same family, there were two different mutations, but it's just because Lynch Syndrome is common enough that that can happen. Heather Rocha: So when and now, ask your physician for a referral to a cancer program, or just get in touch with your doctors to find out, "What else should we be looking into or thinking about? Am I being screened appropriately? Am I being offered the necessary surveillance for the cancers that exist in my family history?" Brenna: Well I think you've given us a lot of great insight. Just sort of as a closing statement, if you were sitting with someone who was just diagnosed with Lynch Syndrome, or maybe someone who has a child, or a sibling who's been diagnosed, what's your best advice for them? Heather Rocha: My best? Well I'll give two pieces of advice; one logistical, one emotional. So emotional advice is that it is really easy to jump to worst case scenarios every time that ... If you're the person who's sitting in the chair who has the cancer risk, I know how easy it is as a provider to say, "It's probably not cancer, don't worry. That ache, that pain, that little bit of blood; that's probably not cancer." And really do mean it. Heather Rocha: So the important thing is that not every medical concern means that you have cancer right now, but it's also balanced and figuring out how to advocate for yourself. When you know something isn't right, you need to take it upon yourself to keep pushing and keep saying like, "You know what? Something isn't right here, can we look into other [inaudible 00:17:48] that should be offered to me if I do have Lynch Syndrome?" So in terms of emotional advice is don't assume the worst, but don't be afraid to advocate for yourself either; so it's a careful balancing act of how to reconcile all of that in your mind. Heather Rocha: My second piece of advice is logistical in nature, that if you have Lynch Syndrome, the best thing you can do for yourself is actually time all of your screening procedures together at the same time of year. It can be overwhelming to know so every ... I'll mention now that every program who follows people who have Lynch Syndrome, or every physician, the guidelines that exists now, they're not hard and steady recommendations that, "You must do this every year, you must do that every year." Heather Rocha: There's so many nuances to how to best screen for specific cancer types. Certain studies are not going to be specific enough, and some physicians feel comfortable with that; others don't. So you need to, one, to get a team that's going to fit your needs and your level of concern, but also all of those screening procedures, it's easiest if you can get your colonoscopy, upper endoscopy same day, have your urinalysis done that same day, try and coordinate if you need to see dermatology if that's ever been recommended to you; coordinate that all in the same month. So get your Lynch stuff out of the way at one time of year, don't burden yourself with thinking about all of those screenings at all through the year over different months. Brenna: Thank you, Heather, so much for your insights. Whether you've interacted with a genetic counselor yet or not, they play an invaluable role in the journey of anyone diagnosed with a rare disease. If you think you or your family might have Lynch Syndrome, I would recommend looking at nsgc.com to find a genetic counselor near you. Brenna: Our next conversation is with Dr. Julie Woods. Dr. Woods is a medical oncologist in the Geisinger medical system, with a special interest in Lynch Syndrome. Thanks so much for joining us today Dr. Woods. Julie Woods: Thank you for having me. Brenna: Yes, of course. Why don't you tell us a little bit about yourself? Julie Woods: Okay, so I'm a medical oncologist, currently I am in Danville, Pennsylvania at Geisinger Medical Center. I did my training at Fox Chase Cancer Center in Philadelphia, and then my family and I moved here to Danville. Julie Woods: And since being here, one of the many, many pleasures I've had since being at Geisinger was being able to start one of the few Lynch Syndrome multidisciplinary clinics, which is pretty much exclusive for our patients who have a hereditary risk for developing cancer, and most common of that it would be Lynch Syndrome. Brenna: Wonderful, thank you so much. So speaking from that experience, what immediately comes to your mind when you hear Lynch Syndrome? Julie Woods: Well the first thing that comes to mind when I think of Lynch is I think of families that have this shared experience, the shared syndrome, and I think of what they are going through, and I think of all of the things that they need to do to ensure that they are keeping themselves and each other healthy. Julie Woods: Which is again one of the reasons I started the clinic here at Geisinger, because of all of the things that are necessary for our Lynch Syndrome patients from terms of screening and things, in terms of getting the right screening, and the right testing that they need. So one of the first things that I think about is just the families and all of the things that may seem a little overwhelming to them, and our goal is to make it less overwhelming, and to improve their journey. Brenna: So I would imagine that you often see quite a few individuals with Lynch Syndrome just based on having this clinic. So with that knowledge, how common is Lynch Syndrome? Is it more prevalent in certain populations or areas of the world? Julie Woods: So a lot of people don't know about Lynch Syndrome, but the truth is, it is actually pretty common. Lynch Syndrome is actually one of the most, or the most, common hereditary cancer syndrome. And it estimates that one in every 300 people may carry a gene mutation that's associated with Lynch. Julie Woods: We are learning about Lynch Syndrome all the time and right now, I can't say that there is a particular population that is at highest risk, either here in the U.S. or around the world, because there are so many potential genes that could be affected, and we're learning of these genes actually can lead to Lynch Syndrome versus just being mutated and really not having a clinical implication. But it is actually a pretty common syndrome in terms of one in 300 people can carry a mutation that could lead to Lynch. Brenna: So when a physician might see a patient, what would make them suspicious of Lynch Syndrome, say, if they don't yet have this diagnosis? What certain things would a physician see that might make them think, "Oh, maybe Lynch Syndrome?" Julie Woods: So the biggest red flags that come about are: one, seeing a particular person if that particular patient has developed what we call Lynch related cancers. So if this particular patient has a look about them that they've developed, perhaps, colon cancer, or rectal cancer, or they also have a history of endometrial cancer; most importantly is if they're also developing these cancers at young ages. Julie Woods: Because the median age for somebody to develop colon cancer is actually in their 60s and 70s. And so if you're seeing a patient who's developed colon cancer or rectal cancer when they're much younger than that in their 20s, 30s, and 40, that's definitely a red flag for you to think of something like Lynch. Julie Woods: In addition to that, a physician should also be very aware of knowing that patient's family history, because family history is very key when we think about Lynch Syndrome. So one of the things that we think about when we're getting a family history is knowing do they have first degree relatives that have had Lynch related cancers, multiple first degree relative with Lynch related cancer, and things like that? So those are the things that you would want to think about as a physician to make you suspicious for Lynch Syndrome. Brenna: So taking all of that information into account, how does someone actually receive a diagnosis of Lynch Syndrome? Julie Woods: So it's actually very easy to be diagnosed, it's actually through a blood test or genetic testing. So most of the time patients, again, through the suspicion of their primary care, they might be referred to a geneticist where they would get additional testing, and they'd be questioned about their family history to see if testing is appropriate for them. Julie Woods: And if they are tested, and they are found to have Lynch Syndrome, what happens is through that blood test, we are looking for mutations in particular genes that we know to be associated with Lynch Syndrome. And if we find them, and a person fits the characteristics, either because of their family history, or their own personal history of cancer, then we can make the diagnosis of Lynch Syndrome. Julie Woods: I will say though sometimes, in some situations, we might not find a particular genetic mutation that would lead us directly down the line and say, "Okay, you have Lynch." But if the family history is very strong, and the personal history is very strong, sometimes we might treat that patient just giving them the most benefit in terms of making sure they're getting the appropriate screening. We might treat that patient as if they do have Lynch just to make sure that nothing gets missed in their lifetime. Brenna: Going ahead and being proactive even if we don't have all the answers? Julie Woods: Exactly. Because one of the other things again with Lynch Syndrome, we're learning about it all the time. And genes that we might say that we know today might not be related to Lynch, we might learn five years from now, through all of the studies that we're doing, that they are in fact related to Lynch, and those patients we don't want to miss, and we want to make sure we capture them, and we treat them appropriately. Brenna: So if someone has Lynch Syndrome, they have one of these genetic differences, are they guaranteed to develop cancer? Julie Woods: No, and that's an important thing, and I make sure I let every person I meet with Lynch Syndrome know this. Lynch Syndrome is not a death sentence, it is not a guarantee that you will leave with cancer. In fact, we know that some studies have shown that patients who have received appropriate screening, they can have healthy lives as their family members who haven't been diagnosed with Lynch. Julie Woods: And so we know the importance of screening, but it does not guarantee that a person will develop cancer. We know that their risk is higher and, in some cases depending on the mutation they have, their risk can be considerably higher. But it is not a guarantee that they will develop cancer in their lifetime. In fact, I have had the privilege of meeting people with Lynch Syndrome who have never had a cancer, and we're keeping healthy people healthy. Brenna: So let's say that you're seeing a patient who just got a diagnosis of Lynch Syndrome, what management and screening recommendations would you recommend for them? Julie Woods: So there is a lot of things a patient with Lynch is going to need to do. One of the first things I would recommend is talking to their healthcare provider, somebody that they trust that that can refer them either to a clinic like mine, where we have experts on the management of Lynch Syndrome so they can sit down and meet with a team, or if their doctor is familiar with Lynch Syndrome that can guide them in the right direction, because there are a lot of screenings that are necessary for somebody with Lynch Syndrome. Julie Woods: Predominantly The most common cancer related to Lynch is colorectal cancer. And so one of the things that they will need, depending on their age, they might need a colonoscopy right away if they are in their early 20s. Certainly if they're beyond the age that we would recommend screening, those are one of the things that we would set up for them. And sometimes even the day we meet them, we can make sure that they have a colonoscopy scheduled to get that taken care of right away. Julie Woods: Other things that they would need is oftentimes we will make sure that they are seeing a urologist in order to talk about their risk related to cancers of the GU [inaudible 00:27:36] tract. And that would be cancers of the bladder, the kidneys, the urinary ducts and things, and screening them for any place where cancer might be in that area. Julie Woods: For our women, we also recommend, and make sure, that they are up to date with their screening mammograms, because we know that breast cancer now has newly been associated with Lynch Syndrome. But breast cancer, in and of itself, is a very common malignancy, a very common cancer; so we want to make sure that we're not missing that. Julie Woods: But most importantly, we also know that Lynch can be related to cancers of the ovaries and the uterus, so there a number of things that can be done, and it can be a little overwhelming as well. But, certainly, we make sure that we schedule the things that are necessary, educate the patient and their families, making sure that they're getting the appropriate screening, and trying to make it as less invasive into their daily lives as possible. Julie Woods: I also think one of the most important things that a person with Lynch, especially when they're first diagnosed, can do for themselves is to talk to somebody. Talk to their family, talk to their friends and, if necessary, talk to a psychologist. Because there are a lot of implications with what Lynch Syndrome is, and it can cause a lot of anxiety in a person, and we want to make sure that we are taking a holistic approach and making sure that mind, body, and soul is being addressed when we're trying to talk about everything that needs to be done for a person with Lynch. Brenna: So I know you mentioned all of the different screening and recommendations, and it seems like they really need a multidisciplinary team to take care of them, and you currently have a clinic that fits that. But for patients maybe who aren't in the Pennsylvania Danville area, are there resources they can go to to find other multidisciplinary clinics? Julie Woods: Good question. So one of the things we certainly would recommend, once you get diagnosed to especially talking with your geneticist, if that's how you got diagnosed, or your primary care. More especially if you've had a cancer already to find what's available in your area. Julie Woods: This clinic that we have here at Geisinger, it is a unique experience that we offer to our patients, but there are a couple of other clinics that are built in this way around the U.S. at least. And so if you are in an area where one is available, that's something that you could look into and be helped by your primary care, or your oncologist if you've been already diagnosed with cancer. Julie Woods: Again, taking a proactive approach, looking online and seeing if there are resources in your area. There are really good resources online, lynchsyndromecancer.net is a good website for our patients to give them reliable information, and might be able to help guide them as to where they need to go. Julie Woods: I think the most important thing is once you get diagnosed, is to just start talking. Start talking to people, talk to your primary care doctor, talk to your oncologist, or geneticists to find where you can go to get the best resources so that you're educated, and then you know exactly what needs to be done. Brenna: Thinking about surgeries, are there any surgeries that can benefit this population? Julie Woods: Yeah. So for our women who have been diagnosed with Lynch Syndrome, there is research that has shown us that prophylactic hysterectomies and oophorectomy, so removal of the ovaries and the uterus. Not something I would recommend for a very young women, but certainly as they get older, the risk does increase. And so are women in their 40s, especially or older, who have completed their childbearing, that's one of the things that we do talk to them about to have this prophylactic surgery. Brenna: So I know you also mentioned colonoscopy as being a big part of care for these individuals just because of that risk of colon cancer. How often should someone be getting a colonoscopy? Julie Woods: Yeah, so colorectal cancer, that is one of the biggest parts of Lynch Syndrome, and that is going to be one of the most daunting parts of our surveillance. Because for Lynch Syndrome, patients are recommended, for some of them, recommended getting colonoscopies every year; which is a big difference. Because they might have friends or family members who say, "Oh, I don't need another colonoscopy for five or 10 years." Julie Woods: But when you have Lynch Syndrome, that risk is higher, and so we do recommend for some people it can be as often as every year. Now it does depend on the mutation that you have, and there is some data that says depending on your mutation, we can spread that out to maybe two to three years. But for the most part, it is much, much more frequent than somebody who is at average risk or somebody who does not have Lynch. Brenna: So is there a cure for Lynch Syndrome? Julie Woods: So right now there is not a cure. It's a genetic, inherited mutation syndrome that you've inherited, and it's gone through your family line so there is not a cure. I always tell patients, "There's no cure for it, it's not your fault, you couldn't control your genetics, you can't control what you inherit, you can't control what you may pass down, but you can control what the outcome could be by getting appropriate screening." Brenna: So thinking about life expectancy for someone with Lynch Syndrome, is it shorter than other people, is it about the same? And without life expectancy and what's the quality of their life? Julie Woods: So our goal is for the life expectancy of somebody with Lynch to be similar to that of somebody without Lynch as long as they're getting the appropriate screening. And I stress that because we know that getting the appropriate screening can certainly save lives. The goal is to either catch it before, or catch a polyp before it becomes a colon cancer, or if we do find cancer catch it when it is curable. Because that is really what impacts the life expectancy is when that cancer does develop, and our goal, and our hope is that we can prevent that from happening by appropriate screening. Julie Woods: Now quality of life, from all of the testing and the screenings that they need to have, colonoscopies very frequently, seeing their primary care physicians on a more regular basis than somebody that wouldn't have Lynch and things like that. And, of course, the anxiety related to having such a diagnosis, quality of life for a lot of the people with Lynch Syndrome can be a challenge. Julie Woods: And so that's also something that we always take into consideration as well, and I always feel it is important to talk to people, talk to your family, talk to a clinical psychologist to make sure that if there's anything that can help the quality of life. Julie Woods: One of the reasons I really like the structure of our clinic is because we try to make it such as get as many things done in a short period of time. See dermatology, get your colonoscopies, get your upper endoscopes if those are necessary as well. And then you can focus on the rest of the year focusing on your life, and it's not getting tests throughout the year all the time. Brenna: Overall, what's your best advice for someone who has been diagnosed with Lynch Syndrome or maybe has a child, or a sister, or just a family member who's been diagnosed? Julie Woods: So I would ... The biggest thing I always tell people who are diagnosed is: one, lean on your support system, especially if it's your family because they may be going through exactly what you're going through. Get educated, know what Lynch Syndrome is, know what you need to do to stay healthy; because, again, it's not a death sentence. Julie Woods: You know that your risk is higher, but there's no guarantees that any of these things are going to happen, and you just improve your risks, and your chances by just being proactive about it. And one of the really important things are I always say, "You can't control your genetics, but you can control the things that are about your environment." So maintaining a healthy lifestyle, maintaining a healthy weight, maintaining healthy just outlooks on life, and controlling the things that you could control and, again, just supporting each other. Brenna: Thank you Dr. Woods for taking the time with us today. After receiving a diagnosis of Lynch Syndrome, it's so important for you to identify physicians familiar with the condition. Talk to your primary care physician to identify resources near you. Brenna: Our final conversation is with Dr. Julie Hergenrather. Dr. Hergenrather is a psychologist in the Geisinger Health System who sees patients who have just received a diagnosis of Lynch Syndrome. We're so happy to have you Dr. Hergenrather. Julie Hergenrather: I'm Dr. Julie Hergenrather, I have a PhD in Clinical Psychology from the University of Illinois at Chicago, with a residency at Rush Medical Center in Chicago many years ago. Currently I'm the behavioral health psychologist for both the Cancer Institute and women's health at Geisinger in Danville, Pennsylvania, and I've been involved for the last eight or so months with the Lynch Syndrome inherited risk multidisciplinary clinic here in Danville. Brenna: So thinking about Lynch Syndrome, and speaking from your experience as a psychologist, what immediately comes to your mind when you hear Lynch Syndrome? Julie Hergenrather: Well I think that Lynch can be challenging for patients because of the many different cancer risks. And if the patient has several relatives affected by cancers, I think that that also can be a challenge when they get the Lynch diagnosis. Women may experience more distress with a diagnosis, given the risk for gynecological cancers, and having to make several decisions along their life path, maybe eventually at some point about hysterectomies or oophorectomies. However, in general, we find a stress at the diagnosis to be the highest right after disclosure with patients tending to report the distress receding in the year or so afterward, especially once they learn about their risk reducing options. Brenna: And that's when you see patients right? Right after they're diagnosed? Julie Hergenrather: Right after they're diagnosed is when I see them. So kind of in that moment of, "Now what do I do?" And I see them on the same day that they are learning, maybe for the first time, about what their risk reducing options might be. Brenna: And when you see them, what are some of the biggest concerns that patients seem to have? Julie Hergenrather: I think the greatest concern, the most frequent concern is about children, and whether or not the children will be affected; particularly if they already have children. If they don't have children, then it just raises different kinds of questions. But more than once, I've had a parent in tears worrying about maybe they've passed a cancer related gene down to one of their children, and that's very frightening for parents. Brenna: Are there certain things that you can say, or a perspective you can give to help those patients feel a little bit better? Julie Hergenrather: Well we talk about how helpful it is to get your genetic results because you can be proactive, and we talk about how therapies change pretty rapidly as time goes by. Just take breast cancer, for example, the therapies for breast cancer and their survival rate has changed dramatically over the course of last 20 years. Julie Hergenrather: So if a patient has young children, we try to be reassuring that treatment is going to look vastly different when the children are young adults, and at a time in their life when they need to be concerned. Julie Hergenrather: And we also will talk about strategies for just kind of staying in the here and now, that these are decisions and probabilities that don't get expressed until 20s and 30s. And so the child has a quite a long period of time before they get, and will be, an adult if they ever get to a place where they need to be considering and making decisions. Brenna: So I know you see patients right after they're receiving that diagnosis, so this might not be something that you see often. But how would you say that patients perceive their quality of life with Lynch Syndrome? Julie Hergenrather: So a lot of things go into quality of life: relationships, and the communities that you're a part of, involvement in meaningful work, financial security, family ties, hobbies, good health, spirituality; all sorts of things. And so I wouldn't, necessarily, predict that a Lynch diagnosis alone would negatively impact quality of life. Julie Hergenrather: And I don't hear patients having a concern about their future quality of life either, even when I see them right at the beginning. They're not they're not expressing, "Oh no, now my life is going to be awful." So even though it's a challenging life event, I don't think that in and of itself it predicts poor quality of life. Julie Hergenrather: And I think that, in general, once there's been some acceptance of and understanding about the diagnosis, people kind of naturally recover their ability to reframe, sort of, "Given that I have this diagnosis, what kind of life do I want to lead?" Julie Hergenrather: And although the screens can be pretty frequent, I think in Lynch Syndrome, and that can be a challenge for people that they really do have to change their ... It really does interfere with your schedule. But once a person kind of gets into the routine, I think that it just is a part of routine. Brenna: And thinking about resources as these individuals just get this diagnosis, I know they get so much information right at the beginning, are there certain organizations, or resources that you would recommend for individuals who just got a diagnosis, or even for their family members? Julie Hergenrather: So the one that I like the best is Lynch Syndrome International at lynchcaners.com. This is a really nice clearinghouse for information, particularly if you're new to the diagnosis and have some questions, as well as for other resources and touching base with other folks. And you can even become involved in fundraising activities if that's something that you want to do, so I think that's a great starting place for folks. Brenna: Sort of thinking about it a bit more broadly, what kind of advice would you give to someone who's just been diagnosed, or who has a child, or a loved one who's been diagnosed? Julie Hergenrather: So medically speaking, I think it's really important to find knowledgeable providers who clearly describe the syndrome to the patient, the ongoing screening options, and clearly can explain the results of any screening tests. And I think it's important to keep in mind that a proper appear can require visits to numerous specialists. Julie Hergenrather: As we've mentioned, here at Geisinger, patients are seen in a multidisciplinary clinic. So in one admittedly lengthy visit, they consult with a variety of specialists rather than having to make separate appointments in various offices around the system. Julie Hergenrather: But if a patient doesn't have access to an MDC, there's not one available on their region, then it might be helpful to keep a log of all the screening recommendations, and to be sure to take notes, and keep a log of the recommended frequency of this screenings, and the outcomes of those screenings to keep sort of a track of their medical record over the years, and to kind of make sure that they stay on track with the timing of the screenings; so keeping that law can be really, really helpful. Julie Hergenrather: I would also say be sure you go to reliable websites like we've already mentioned, be sure to get educated. I think it's really helpful for family members of folks who with a diagnosis to be educated as well so that you can discuss, adequately, with your loved one if they want to talk about it. Julie Hergenrather: And the more you know, the more comfortable you're going to be with what's in front of you. And the more your family knows, the more supportive that they are able to be, and the more likely they are to be encouraging and helpful as you go to your appointments, and get yourself scheduled in, and kind of be your support system. Brenna: Thank you Dr. Hergenrather for joining us today. Receiving a diagnosis of a rare condition can be stressful, it's important to talk to someone about your experiences. With Lynch Syndrome being the most common hereditary cancer syndrome, there's a lot of individuals with shared experiences willing to help. Brenna: In closing, we've had the opportunity to talk to three amazing experts today in Lynch Syndrome, but it is just the beginning. We have taken all of today's information and included it in a free downloadable guide. You can get your free copy by going to raredisease.com/lynch; we would love to connect with you. Brenna: If you need to talk to someone, we're standing by, go to raredisease.com/help; we're waiting for you. Rare Disease Connection is a production of Aspect Health and raredisease.com. Thanks for joining us.

Clinical Trials

Predictive Factor Study of the Occurrence of Endometrial Cancer in Patients With Lynch Syndrome

University Hospital, Lille

Learn More on ClinicalTrails.gov

Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer

University Health Network, Toronto

Learn More on ClinicalTrails.gov

Registry for Women Who Are At Risk Or May Have Lynch Syndrome

M.D. Anderson Cancer Center

Learn More on ClinicalTrails.gov

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