Lynch Syndrome Cancer Risk to Age 70

Individuals with Lynch syndrome are at increased risk for multiple cancer types (common ones shown here). Note: MLH1 has the highest pancreatic cancer risk, MSH2 has the highest urothelial & prostate cancer risk, & PMS2 risks are mainly CRC & EC.

What is the difference between an ileostomy and a colostomy?

Ileostomies and colostomies are both forms of ostomy surgery. Each procedure involves different parts of a person’s bowel.

Ileostomies and colostomies can both be lifesaving surgeries. If a person has any concerning bowel symptoms, they should talk with a doctor.

Lynch Syndrome: Know your risk | Dana-Farber Cancer Institute

Dana-Farber’s Matt Yurgelun, MD, discusses Lynch Syndrome research and the challenges of a Lynch Syndrome diagnosis. Dana-Farber’s Lynch Syndrome Center offers genetic testing to help identify Lynch Syndrome carriers who may be at increased risk for a variety of cancers.

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

The current study found low CRC mortality in path_MMR carriers who receive colonoscopy surveillance while some extracolonic cancers were associated with high mortality. Further improvement of survival in LS may require a focus on the prevention and treatment of non-colorectal cancers, likely including approaches based upon the immune response to MSI pre-cancerous lesions and cancers.

This study also provides more precise cumulative cancer incidences for path_MMR carriers than have been available previously, stratified by age, gene, organ, and gender.

Early-Onset Colorectal Cancer (EOCRC)

Patients with EOCRC have a higher relative prevalence of inherited predisposition to cancer, with Lynch syndrome being the most common cause. 

Colorectal cancer in younger people

Similar factors increase the risk of early-onset colorectal cancer (EOCRC) and later-onset colorectal cancer (LOCRC), such as a sedentary lifestyle, obesity, and metabolic syndrome, but there are also important differences. EOCRC predominantly occurs on the left side of the colon and the rectum, whereas LOCRC arises more commonly on the right side of the colon. EOCRC is also more poorly differentiated and often metastatic at diagnosis.

Research is urgently needed to understand the increasing incidence of EOCRC and its pathophysiology to better detect and treat patients.

Constitutional (germline) vs Somatic (tumour) variants

Constitutional (also known as germline) variants are present in all the body’s cells, including the germ cells, and can therefore be passed on to offspring; somatic variants arise during an individual’s lifetime in tissues other than the germ cells and so are not passed on.

The identification of a germline variant in a mismatch repair (MMR) gene in a patient with colorectal cancer has implications for the clinical management of the current cancer and the patient’s future cancer risk. It should also trigger cascade screening in the wider family.

(Cascade testing is the process of informing family members of a genetic condition discovered within the family, followed by family members getting tested for the condition.)

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