GENETIC BOWEL CANCER

€720

Cancer Predisposition & Tumour Suppressor Genes

  1. APC (Adenomatous Polyposis Coli) – A tumour suppressor gene; mutations cause familial adenomatous polyposis (FAP), leading to numerous precancerous colorectal polyps and an increased risk of colorectal cancer.

  2. BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) – Involved in cell growth regulation; mutations are linked to juvenile polyposis syndrome (JPS), which increases the risk of gastrointestinal cancers.

  3. EPCAM (Epithelial Cell Adhesion Molecule) – Affects cell adhesion; mutations silence MSH2, leading to Lynch syndrome, which increases the risk of colorectal, endometrial, and other cancers.

  4. MLH1 (MutL Homolog 1) – A key DNA mismatch repair (MMR) gene; mutations cause Lynch syndrome, significantly increasing the risk of colorectal, endometrial, and other cancers.

  5. MSH2 (MutS Homolog 2) – Another critical MMR gene; mutations also cause Lynch syndrome, predisposing individuals to colorectal, endometrial, and other malignancies.

  6. MSH6 (MutS Homolog 6) – Works alongside MLH1 and MSH2; mutations lead to Lynch syndrome, often with later-onset and endometrial cancer predominance.

  7. MUTYH (MutY Homolog DNA Glycosylase) – Involved in oxidative DNA damage repair; mutations cause MUTYH-associated polyposis (MAP), a condition similar to FAP but inherited in an autosomal recessive manner, leading to increased colorectal cancer risk.

  8. PMS2 (PMS1 Homolog 2, Mismatch Repair System Component) – Another MMR gene; mutations contribute to Lynch syndrome, though with a lower cancer risk compared to MLH1 and MSH2 mutations.

  9. PTEN (Phosphatase and Tensin Homolog) – A tumour suppressor gene that regulates cell growth; mutations cause PTEN Hamartoma Tumour Syndrome, including Cowden syndrome, which increases the risk of breast, thyroid, and endometrial cancers.

  10. SMAD4 (SMAD Family Member 4) – Regulates TGF-beta signalling; mutations cause juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT), leading to vascular abnormalities and increased GI cancer risk.

  11. STK11 (Serine/Threonine Kinase 11) – A tumour suppressor gene; mutations cause Peutz-Jeghers syndrome (PJS), characterised by gastrointestinal polyps and a high risk of breast, pancreatic, ovarian, and gastrointestinal cancers.