What is it?

Our Genetic Bowel Cancer Risk Test screens and detects genetic variants in 11 genes that may increase the risk of bowel cancer and Lynch Syndrome. The genes analyzed include APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, and STK11.

1. APC: Tumor suppressor gene involved in controlling cell growth. Mutations cause familial adenomatous polyposis (FAP), leading to a high risk of colon cancer.

2. BMPR1A: Involved in cell growth and development. Mutations can cause juvenile polyposis syndrome, increasing the risk of gastrointestinal cancers.

3. EPCAM: Affects cell adhesion and signaling. Mutations can lead to Lynch syndrome (via MSH2 inactivation), increasing the risk of colon and other cancers.

4. MLH1: Involved in DNA mismatch repair. Mutations cause Lynch syndrome, leading to a higher risk of colorectal and other cancers.

5. MSH2: Another gene involved in DNA mismatch repair. Mutations are a common cause of Lynch syndrome, with increased cancer risks.

6. MSH6: Also involved in DNA mismatch repair. Mutations increase the risk of Lynch syndrome, though typically with a later onset than MLH1 or MSH2 mutations.

7. MUTYH: Involved in DNA repair, specifically fixing oxidative damage. Mutations cause MUTYH-associated polyposis (MAP), increasing colorectal cancer risk.

8. PMS2: A DNA mismatch repair gene. Mutations can cause Lynch syndrome, contributing to a higher risk of colorectal and other cancers.

9. PTEN: Tumor suppressor gene that regulates cell growth. Mutations cause Cowden syndrome, increasing the risk of breast, thyroid, and other cancers.

10. SMAD4: Involved in signal transduction and regulating cell growth. Mutations cause juvenile polyposis syndrome, increasing gastrointestinal cancer risk.

11. STK11: Tumor suppressor gene involved in regulating cell growth. Mutations cause Peutz-Jeghers syndrome, leading to an increased risk of gastrointestinal and other cancers.

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The Process

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