From the Horse’s Mouth: Life with Lynch Syndrome


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This blog was written by Fight CRC Research Advocate Heidi Jurgens. Genetic testing revealed she has Lynch Syndrome, which has allowed her to be proactive in preventing colorectal cancer, among many other cancers.

"Access to genetic testing, screenings, and high-quality healthcare has so far kept me cancer-free. I joined Fight CRC to be a voice for patients that might not have the access or information they need to prevent, detect, diagnose, and treat cancer."

About Heidi

I come from a strong family history of multiple generations of relatives diagnosed with various cancers in their 30s and 40s. We’d later come to learn through genetic testing that we have Lynch Syndrome, specifically the MLH1 pathogenic variant.

Knowing my family history, getting genetic testing, and staying current on my screenings (e.g., colonoscopy, upper endoscopy, endometrial biopsy, ovarian ultrasound, skin checks, and more), has helped me manage living with Lynch Syndrome for more than a decade. I’ve been lucky to remain cancer-free so far, but the constant uncertainty about what lies ahead can be challenging.

In 2020, I joined Fight CRC as a Research Advocate to increase awareness of the importance of hereditary cancer research, ensure patients’ perspective is considered in research studies, and communicate the latest research findings into actionable information all patients can use. About 1 in 300 people have Lynch Syndrome, but only 5% of them have been currently diagnosed.

Over the past few months, I’ve had the opportunity to attend several virtual conferences focused on Lynch Syndrome, including the DFCI Lynch Syndrome Conference, Living with Lynch Patient Workshop, and CGA Inherited Gastrointestinal Cancer Meeting. This has been a fantastic immersion into the latest research advances and perspective shared by scientists, clinicians, and patients.

Below, I highlight some of the research that I found particularly interesting, and also impactful, in the near-term for people with Lynch.

Post-Colonoscopy Interval Cancers – Biology of Lynch Syndrome or Quality of Colonoscopy?

Even under regular surveillance, many people with Lynch Syndrome (LS) develop colorectal cancer (CRC) between their colonoscopies – why? The assumption is that LS CRC grows so quickly from a polyp to invasive cancer that colonoscopies are needed every 1-2 years to remove polyps and prevent cancer.

While this is likely still an important factor, recent findings suggest there is more to this story. New research using data from the Prospective Lynch Syndrome Database (PLSD) shows that LS patients getting colonoscopies every 1-2 years don’t fare better (no difference in incidence, stage, or survival) than those that get them every 3 years. This seems counterintuitive at first, but they explain that instead of developing via polyps, LS cancers may develop directly from mismatch repair deficient “crypts” that line the intestine. These crypts cannot (yet) be detected by colonoscopy. This means that detecting polyps may not be enough to prevent CRC in some LS patients. It’s not clear yet how specific genetic variants (MLH1, MSH2, MSH6, PMS2) may impact the different polyp vs. non-polyp pathways to CRC. 

Other researchers point out that quality of a colonoscopy is also critical when thinking about timing of colonoscopy and interval cancers. A study that spurred lively discussion focused on the role of high-quality performance indicators in colonoscopy – including good bowel prep, the use of high-definition endoscopes, complete visualization of the colon to the cecum, and withdrawal time, along with intervals less than 3 years.

They found that only 28% of LS carriers received procedures that hit all these marks. Lack of quality measures, either on the part of the patient (prep, interval), or the provider (skill, time, type of scope) can lead to missed or incompletely removed polyps and subsequent interval cancers. These research studies lead to important questions for LS individuals facing decades of screening – how often do I really need a colonoscopy and how do I ensure they are high-quality procedures?

More research is needed to better understand the potential crypt pathway to cancer and to develop new screening methods to detect/remove precancerous lesions beyond polyps. In the meantime, efforts to ensure that all patients receive high-quality colonoscopies should be a top priority.

Aspirin: A Magic Pill for Chemo Prevention of Lynch Syndrome Cancers?

Accumulating data suggest that aspirin may help prevent colon cancer, especially in people with LS. New findings from the CAPP2 study found that LS patients who took 600mg of aspirin for two years showed significantly reduced risk for colon cancer (about 40-50% fewer colon cancers in those that took aspirin).

Strangely, this protective effect takes 4-5 years to show up, but then appears to persist for 10-20 years. More research is needed to determine the optimal dose and duration of aspirin, which is currently ongoing in the CAPP3 Trial by looking at 100mg, 300mg, and 600mg doses. There was also a trend for aspirin to protect against non-colonic LS cancers (e.g. endometrial), but these effects may not be as long-lasting.

Exciting questions remain about the potential interaction between aspirin, the immune system, and the gut microbiome, and whether other NSAIDs (ex. naproxen) may also hold beneficial effects.

Lynch Syndrome and Women’s Health: Time to get Personal(ized)?

In women with LS, the risk for gynecologic cancer can exceed that of CRC, but many patients (and even providers) are unaware of LS-related cancer risks beyond the colon. A woman's risk for endometrial (uterine) and ovarian cancer is impacted by the specific LS genetic variant, family history, and age, so it’s key to take these into account when creating a personalized screening plan.

Unfortunately, current screening methods (endometrial biopsy, ultrasound, CA125), have not yet been shown to reduce mortality. Because of this, there are recommendations for LS women to consider risk-reducing surgery to remove the uterus, fallopian tubes, and ovaries around age 35-40 years old. While effective at preventing cancer, the removal of the ovaries sends women into early (surgical) menopause way before they’d naturally go through it in their early 50s.

Early menopause has immediate and long-term health consequences that are not completely solved by hormone replacement therapy (HRT). The Women Choosing Surgical Prevention (WISP) Trial will explore the option for women with LS or BRCA genetic mutations to remove the fallopian tubes (and uterus for LS), but keep the ovaries until they are closer to natural menopause. For LS, this would remove the very high risk of endometrial cancer, while keeping the ovaries (which have lower risk for cancer) for a few years longer. It’s possible that removing the fallopian tubes may also reduce risk of ovarian cancer – recent data show that some ovarian cancers originate in the fallopian tubes.

More research is needed to determine if this two-stage surgical strategy will be effective for preventing cancer and/or improving quality of life, but it holds promise for offering women more choices in managing their gynecological cancer risk.

What Can LS Patients Do?

While finding out you have Lynch Syndrome can feel overwhelming, ultimately this knowledge can help ensure you get on the right path of screening and early detection, which can be life saving. Try to learn as much as you can about your family history and share it with all of your providers.

While the decision to get genetic testing should be made carefully, knowing what variant you have is key to designing your own personalized plan for screening and treatment options. Ask your doctors about timing/quality of your colonoscopies and the risks/benefits of taking aspirin.

For women, be sure your gynecologist is aware of LS and can participate in shared decision making around gynecological screening and surgery. Having a care team of providers that are willing to answer your questions, explore your options, and include your perspective is critical.