March 22 marked Lynch Syndrome Awareness Day – a date that holds deep personal meaning for me. While the day may have passed, the mission it represents continues daily for me, and for millions of others living with this hereditary cancer syndrome.
You see, I carry the PMS2 gene mutation, one of the lesser-known mutations associated with Lynch syndrome. Lynch syndrome is a hereditary condition that significantly increases the risk of developing certain types of cancer. For me, this isn’t just medical jargon, it’s part of my life story.
Lynch syndrome was first described in 1913 by Aldred Warthin and later defined by Dr. Henry Lynch in 1966, whose name the syndrome now bears. His research uncovered familial patterns of cancer, particularly endometrial cancer, across generations. Today, we understand that Lynch syndrome increases the lifetime risk for several cancers and that knowledge can save lives.
Lynch syndrome is tied to mutations in five key genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. Of those, PMS2 is less frequently discussed, yet it still carries significant cancer risk.
The cancers most commonly associated with Lynch syndrome include:
- Endometrial cancer – 57%
- Colon cancer – 45%
- Ovarian cancer – 17%
- Breast cancer – 13%
- Sigmoid/rectal cancer – 13%
- Stomach cancer – 8%
- Bladder cancer – 8%
- Duodenal cancer – 7%
- Ureter/kidney cancer – 7%
- Pancreatic cancer – 6%
- Brain cancer – 5%
(Source: educational medical visual based on standard cancer research findings.)
I didn’t always know I was a carrier. It took years of unexplained symptoms including heavy menstrual cycles before I pushed for genetic testing in October 2020. Two months later, I received the results: I carried both the PMS2 and BRCA2 gene mutations. That moment was life-changing.
I chose to act fast: I began preventative care in early 2021 and underwent a complete hysterectomy in July 2022. Despite these steps, I was diagnosed with Stage 1, Grade 3 Triple Negative Breast Cancer in October 2023. If I hadn’t already been on high alert, if I hadn’t known my risk; my outcome could have looked very different.
That’s why I keep sharing this message.
Even though March 22 has come and gone, the need for awareness has not. Lynch syndrome affects 1 in 279 people, many of whom don’t know they’re living with a ticking time bomb. Too many go untested. Too many find out too late.
This is especially urgent in Black and Brown communities, where disparities in healthcare limit access to genetic testing, education, and early screenings. Cultural stigma, lack of resources, and historical mistrust add layers of complexity, but that doesn’t mean we can’t break through.
So, no matter what day it is when you read this – ask questions. Know your family history. Push for answers. Because your life could depend on it.
If you’ve already passed March 22 without knowing what it represented, I hope this message brings it into focus now. Because every day is a chance to become your own advocate.
My name is Shanise Pearce. I live with Lynch syndrome. I carry the PMS2 mutation. And I am proof that knowledge, advocacy, and early detection can change everything.
Sources Cited in the Article:
Centers for Disease Control and Prevention (CDC) Lynch Syndrome and Colorectal Cancer
➤ https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm
▪️ Offers an overview of Lynch syndrome, associated cancer types, and the importance of family history.
National Cancer Institute (NCI) Lynch Syndrome Fact Sheet
➤ https://www.cancer.gov/about-cancer/causes-prevention/genetics/lynch-syndrome-fact-sheet
▪️ Details the genetic mutations involved (MLH1, MSH2, MSH6, PMS2, EPCAM) and risk percentages.
JAMA Network (2017) Prevalence and Clinical Spectrum of Lynch Syndrome in the General Population
➤ https://jamanetwork.com/journals/jama/fullarticle/2664457
▪️ Provides the “1 in 279” prevalence statistic and other key epidemiological data.
American Society of Clinical Oncology (ASCO) Educational Resources Genetics of Colorectal Cancer: Lynch Syndrome
➤ https://www.asco.org/practice-patients/guidelines/genetics
▪️ Includes visuals and summaries of common cancer risks associated with Lynch syndrome.
National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines
➤ https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
▪️ Used by medical professionals to determine testing guidelines and risk-based screening schedules.
Cleveland Clinic Lynch Syndrome Overview ➤https://my.clevelandclinic.org/health/diseases/16846-lynch-syndrome
▪️ Offers accessible language for patients and families, including info on PMS2.
Mayo Clinic Genetic Testing and Risk for Hereditary Cancer Syndromes
▪️ A helpful breakdown of why early testing matters, especially for BRCA and Lynch-related conditions.
Image Source (Figure referencing cancer risk distribution in Lynch syndrome): The graphic shown in the image appears to be based on data found in peer-reviewed journals and reputable patient education materials. A similar figure is published in:
➤ Hampel H, et al. J Clin Oncol. 2005;23(36):9431–9437
These are the cancers associated with Lynch syndrome
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