Germline Panel – Colorectal Cancer

Test Code
SLS161005

What is the Germline Panel - Colorectal Cancer?

Colorectal cancer is one of the most common cancers worldwide with an incidence of 1.9 million (Globocan 2022). Approximately 5–10% of colorectal cancers have an underlying hereditary cause. The Germline Panel – Colorectal Cancer identifies genetic mutations associated with hereditary colorectal cancer syndromes, such as Lynch syndrome, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and other inherited conditions that increase colorectal cancer risk. Early identification of these mutations enables tailored surveillance, risk-reducing strategies, and family testing.

Genes Covered/No of Genes: APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53

Indications for Testing

  • Individuals with colorectal cancer diagnosed before age 50.
  • Patients with multiple colorectal polyps (>10) or a family history of polyposis syndromes.
  • Individuals with a personal or family history of Lynch syndrome-related cancers.
  • Patients meeting Amsterdam or Bethesda criteria.

Inheritance Pattern

  • Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM) follow an autosomal dominant inheritance pattern.
  • FAP-associated APC mutations are also autosomal dominant, while MUTYH-associated polyposis (MAP) follows an autosomal recessive pattern.

Why is This Test Important?

Identifying inherited mutations allows for enhanced colorectal cancer screening, early intervention, and risk reduction strategies.
Colorectal Cancer

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