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Cancer Predisposition Genes

ATM (Ataxia-Telangiectasia Mutated) – A gene involved in DNA repair; mutations increase the risk of breast cancer, pancreatic cancer, and other malignancies.
APC (Adenomatous Polyposis Coli) – A tumour suppressor gene; mutations cause familial adenomatous polyposis (FAP) and increase colorectal cancer risk.
BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) – Involved in cell growth; mutations are linked to juvenile polyposis syndrome, increasing gastrointestinal cancer risk.
BRCA1 (Breast Cancer 1) – A crucial DNA repair gene; mutations greatly increase the risk of breast, ovarian, and other cancers.
BRCA2 (Breast Cancer 2) – Works with BRCA1 in DNA repair; mutations elevate risks for breast, ovarian, pancreatic, and prostate cancers.
CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A) – Regulates cell cycle; mutations are associated with hereditary melanoma and pancreatic cancer.
CHEK2 (Checkpoint Kinase 2) – Helps repair damaged DNA; mutations increase breast, prostate, and colorectal cancer risk.
FLCN (Folliculin) – Mutations cause Birt-Hogg-Dubé syndrome, leading to lung cysts, kidney cancer, and skin lesions.
MEN1 (Multiple Endocrine Neoplasia Type 1) – A tumour suppressor gene; mutations cause MEN1 syndrome, affecting endocrine glands and increasing cancer risk.
MET (MET Proto-Oncogene) – Regulates cell growth and migration; mutations are linked to hereditary papillary renal cell carcinoma.

DNA Repair and Mismatch Repair Genes

MLH1 (MutL Homolog 1) – A key DNA mismatch repair gene; mutations cause Lynch syndrome, increasing colorectal, endometrial, and other cancer risks.
MSH2 (MutS Homolog 2) – Works in mismatch repair; mutations also cause Lynch syndrome and increase various cancer risks.
MSH6 (MutS Homolog 6) – Another mismatch repair gene; mutations contribute to Lynch syndrome, often with later-onset cancers.
MUTYH (MutY DNA Glycosylase) – Involved in oxidative DNA damage repair; mutations cause MUTYH-associated polyposis (MAP) and elevate colorectal cancer risk.
NBN (Nibrin) – A DNA repair protein; mutations increase breast cancer risk and cause Nijmegen breakage syndrome.
PALB2 (Partner and Localizer of BRCA2) – Works with BRCA2 in DNA repair; mutations increase breast, pancreatic, and ovarian cancer risk.
PMS1 (PMS1 Homolog 1) – Part of the mismatch repair system; mutations may contribute to Lynch syndrome.
PMS2 (PMS2 Homolog 2) – Also involved in mismatch repair; mutations lead to Lynch syndrome and increase colorectal and endometrial cancer risk.
PTEN (Phosphatase and Tensin Homolog) – A tumour suppressor gene; mutations cause PTEN Hamartoma Tumour Syndrome, increasing breast, thyroid, and other cancer risks.

Other Cancer-Associated Genes

RAD51C (RAD51 Homolog C) – Helps repair DNA; mutations increase ovarian and breast cancer risk.
RAD51D (RAD51 Homolog D) – Works with RAD51C; mutations elevate ovarian and breast cancer risk.
RB1 (Retinoblastoma 1) – A crucial tumour suppressor gene; mutations cause retinoblastoma and increase risks for other cancers.
RET (Ret Proto-Oncogene) – A proto-oncogene; mutations cause multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid cancer.
SMAD4 (SMAD Family Member 4) – Regulates cell growth; mutations cause juvenile polyposis syndrome and increase gastrointestinal cancer risk.
STK11 (Serine/Threonine Kinase 11) – A tumour suppressor gene; mutations cause Peutz-Jeghers syndrome, increasing GI, breast, and pancreatic cancer risks.
TP53 (Tumour Protein p53) – The "guardian of the genome"; mutations cause Li-Fraumeni syndrome, leading to multiple early-onset cancers.
TSC1 (Tuberous Sclerosis Complex 1) – Regulates cell growth; mutations cause tuberous sclerosis, leading to benign tumours in multiple organs.
TSC2 (Tuberous Sclerosis Complex 2) – Works with TSC1; mutations also cause tuberous sclerosis.
VHL (Von Hippel-Lindau Tumour Suppressor) – Controls cell growth; mutations cause von Hippel-Lindau syndrome, leading to kidney, brain, and adrenal tumours.