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Genetics & High Risk Cancer Screening Clinic 2015 Research Residents

 

Common Hereditary Cancer Syndromes

 

Below is a list of common inherited genetic mutations resulting in cancer where treatment or interventions can reduce or potentially prevent the occurrence of cancer. Options to reduce cancer risk include screening, chemoprevention, and prophylactic surgery.

 

  1. BRCA1/BRCA2 mutations (Breast/Ovarian Cancer Syndrome) — Increased risk of breast and ovarian cancer and other cancers
  2. PTEN mutations (Cowden Syndrome) — Increased risk of breast and thyroid cancer
  3. P53 mutation (Li-Fraumeni Syndrome) — Increased risk of breast and other cancers
  4. CDH1 mutation (Diffuse Hereditary Gastric Cancer Syndrome) — Increased risk of gastric cancer and lobular cancer of the breast
  5. STK11 mutation (Peutz-Jeghers Syndrome) — Increased risk of breast and other cancers
  6. RET mutation (MEN 2) — Increased risk of medullary thyroid cancer and pheochromocytoma
  7. Familial Adenomatous Polyposis Syndrome (FAP) — Increased risk of colorectal cancers and other cancers
  8. Lynch Syndrome - Hereditary Non-polyposis Colon Cancer (HNPCC) — Increased risk of colon cancer, endometrial and other cancers

 


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