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Cancer Predisposition & Tumour Suppressor Genes

1. AIP (Aryl Hydrocarbon Receptor-Interacting Protein) – Mutations cause familial isolated pituitary adenomas (FIPA), leading to excessive hormone production.

2. ALK (Anaplastic Lymphoma Kinase) – A proto-oncogene; mutations are linked to lung cancer, neuroblastoma, and anaplastic large-cell lymphoma.

3. APC (Adenomatous Polyposis Coli) – A tumour suppressor gene; mutations cause familial adenomatous polyposis (FAP) and increase colorectal cancer risk.

4. ATM (Ataxia-Telangiectasia Mutated) – A DNA repair gene; mutations increase breast, pancreatic, and other cancer risks.

5. BAP1 (BRCA1-Associated Protein 1) – A tumour suppressor; mutations are linked to BAP1 tumour predisposition syndrome, causing mesothelioma, melanoma, and kidney cancer.

6. BLM (Bloom Syndrome RecQ-Like Helicase) – Involved in DNA repair; mutations cause Bloom syndrome, increasing cancer risk.

7. BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) – Regulates cell growth; mutations cause juvenile polyposis syndrome, increasing GI cancer risk.

8. BRCA1 (Breast Cancer 1) – A key DNA repair gene; mutations increase breast, ovarian, and pancreatic cancer risk.

9. BRCA2 (Breast Cancer 2) – Works with BRCA1; mutations increase breast, ovarian, and prostate cancer risk.

10. BRIP1 (BRCA1 Interacting Protein C-Terminal Helicase 1) – Works in DNA repair; mutations increase ovarian cancer risk.

11. BUB1B (Budding Uninhibited by Benzimidazoles 1 Homolog Beta) – Regulates cell division; mutations cause mosaic variegated aneuploidy syndrome, increasing childhood cancer risk.

12. CDC73 (Cell Division Cycle 73) – A tumour suppressor; mutations cause hyperparathyroidism-jaw tumour syndrome, increasing parathyroid cancer risk.

13. CDH1 (Cadherin 1) – A tumour suppressor involved in cell adhesion; mutations increase hereditary diffuse gastric and lobular breast cancer risk.

14. CDK4 (Cyclin-Dependent Kinase 4) – Regulates the cell cycle; mutations are linked to hereditary melanoma.

15. CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C) – Regulates cell growth; mutations cause Beckwith-Wiedemann syndrome, increasing cancer risk.

16. CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A) – A tumour suppressor; mutations increase melanoma and pancreatic cancer risk.

17. CEBPA (CCAAT/Enhancer-Binding Protein Alpha) – Regulates blood cell development; mutations increase acute myeloid leukaemia (AML) risk.

18. CEP57 (Centrosomal Protein 57kDa) – Regulates microtubules; mutations cause mosaic variegated aneuploidy syndrome, increasing cancer risk.

19. CHEK2 (Checkpoint Kinase 2) – A DNA repair gene; mutations increase breast, prostate, and colorectal cancer risk.

20. CYLD (Cylindromatosis Tumour Suppressor) – Mutations cause Brooke-Spiegler syndrome, leading to skin tumours.

21. DDB2 (Damage-Specific DNA Binding Protein 2) – Involved in nucleotide excision repair; mutations increase skin cancer risk.

22. DICER1 (Dicer 1, Ribonuclease III) – Regulates RNA processing; mutations cause DICER1 syndrome, leading to various rare childhood tumours.

23. DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2) – Mutations cause Perlman syndrome, linked to Wilms tumour.

24. EGFR (Epidermal Growth Factor Receptor) – A proto-oncogene; mutations are linked to lung and brain cancers.

25. EPCAM (Epithelial Cell Adhesion Molecule) – Affects cell adhesion; mutations are linked to Lynch syndrome.

26. ERCC2/ERCC3/ERCC4/ERCC5 (Excision Repair Cross-Complementation Group 2, 3, 4, 5) – Involved in DNA repair; mutations cause xeroderma pigmentosum and increase skin cancer risk.

27. EXT1/EXT2 (Exostosin 1 & 2) – Mutations cause hereditary multiple exostoses (HME), increasing sarcoma risk.

28. EZH2 (Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit) – Regulates gene expression; mutations are linked to cancers like lymphoma.

DNA Repair & Fanconi Anaemia Pathway

1. FANCA/B/C/D2/E/F/G/I/L/M (Fanconi Anaemia Genes) – Involved in DNA repair; mutations cause Fanconi anaemia, leading to bone marrow failure and increased cancer risk.

2. FH (Fumarate Hydratase) – Mutations cause hereditary leiomyomatosis and renal cell cancer.

3. FLCN (Folliculin) – Mutations cause Birt-Hogg-Dubé syndrome, increasing kidney cancer risk.

4. GATA2 (GATA Binding Protein 2) – Regulates blood cell production; mutations increase leukaemia risk.

5. GPC3 (Glypican 3) – Affects cell growth; mutations cause Simpson-Golabi-Behmel syndrome, increasing Wilms tumour risk.

Other Cancer-Related Genes

1. HNF1A (Hepatocyte Nuclear Factor 1 Alpha) – Mutations increase liver and pancreatic cancer risk.

2. HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog) – A proto-oncogene; mutations are linked to Costello syndrome and cancer.

3. KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase) – A proto-oncogene; mutations are linked to gastrointestinal stromal tumours (GIST).

4. MAX (MYC-Associated Factor X) – Mutations cause pheochromocytoma.

5. MEN1 (Multiple Endocrine Neoplasia Type 1) – A tumour suppressor; mutations increase endocrine cancer risk.

6. MET (MET Proto-Oncogene) – A proto-oncogene; mutations cause hereditary papillary renal cell carcinoma.

Mismatch Repair & Cell Cycle Control

1. MLH1/MSH2/MSH6/PMS1/PMS2 – DNA mismatch repair genes; mutations cause Lynch syndrome.

2. MUTYH (MutY Homolog) – Involved in oxidative DNA damage repair; mutations cause MUTYH-associated polyposis.

3. NBN (Nibrin) – A DNA repair protein; mutations cause Nijmegen breakage syndrome.

4. NF1/NF2 (Neurofibromin 1 & 2) – Mutations cause neurofibromatosis, increasing tumour risk.

5. NSD1 (Nuclear Receptor Binding SET Domain Protein 1) – Mutations cause Sotos syndrome and increase childhood cancer risk.

6. PALB2 (Partner and Localizer of BRCA2) – Works with BRCA2; mutations increase breast and pancreatic cancer risk.

Additional Tumour Suppressors & Cancer Genes

1. PRF1 (Perforin 1) – Involved in immune function; mutations increase lymphoma risk.

2. PRKAR1A (Protein Kinase A Regulatory Subunit 1 Alpha) – Mutations cause Carney complex, increasing endocrine tumours.

3. PTCH1 (Patched 1) – A tumour suppressor; mutations cause Gorlin syndrome, increasing basal cell carcinoma risk.

4. PTEN (Phosphatase and Tensin Homolog) – Regulates cell growth; mutations cause PTEN Hamartoma Tumour Syndrome.

Miscellaneous Cancer-Associated Genes

1. RAD51C/D, RB1, RECQL4, RET, SMAD4, STK11, SUFU, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC – All involved in tumour suppression, DNA repair, or cell cycle regulation, with mutations increasing cancer risks.