€720

DNA Repair & Cancer Predisposition Genes

1. ATM (Ataxia-Telangiectasia Mutated)

   • A DNA damage repair gene that helps fix double-strand breaks.

   • Mutations increase the risk of:

     • Breast cancer (moderate risk)

     • Pancreatic cancer

     • Prostate cancer

   • Biallelic mutations cause ataxia-telangiectasia (a rare neurological disorder).

2. BRCA1 (Breast Cancer 1)

   • A tumour suppressor gene involved in homologous recombination repair of DNA.

   • Mutations significantly increase the risk of:

     • Breast cancer (lifetime risk up to ~70%)

     • Ovarian cancer (lifetime risk ~40%)

     • Prostate and pancreatic cancer (increased risk)

3. BRCA2 (Breast Cancer 2)

   • Works with BRCA1 in DNA repair.

   • Mutations significantly increase the risk of:

     • Breast cancer (including male breast cancer)

     • Ovarian cancer

     • Prostate and pancreatic cancer

     • Melanoma

Tumour Suppressors & Cell Adhesion Genes

1. CDH1 (Cadherin 1)

   • Encodes E-cadherin, a protein crucial for cell adhesion.

   • Mutations are associated with:

     • Hereditary diffuse gastric cancer (HDGC) (high lifetime risk)

     • Lobular breast cancer (moderate risk)

2. CHEK2 (Checkpoint Kinase 2)

   • A DNA damage checkpoint kinase that helps control cell cycle arrest.

   • Mutations increase the risk of:

     • Breast cancer (moderate risk)

     • Colorectal cancer

     • Prostate cancer

3. PALB2 (Partner and Localizer of BRCA2)

   • Works with BRCA2 in DNA repair.

   • Mutations increase the risk of:

     • Breast cancer (high risk, similar to BRCA2)

     • Pancreatic cancer

     • Ovarian cancer (moderate risk)