Melanoma predisposition genes and associations with other cancers
| Gene | Chromosome band | Modifiers | Associated non-cutaneous melanoma cancers | Possibly associated cancers* | References |
|---|---|---|---|---|---|
| CDKN2A | 9p21 | MC1R, UVR, possibly tobacco smoke | Pancreas | ENT (tongue, oral cavity, pharynx, larynx), upper digestive (oesophagus, stomach), brain, breast, cervix, gall bladder, thyroid, leukaemia, liver, lung, lymphoma, renal | 5, 6, 85, 86 |
| CDK4 | 12q14 | – | – | Breast, cervix, colorectal, lung, lymphoma, pancreas, stomach, uterine | 17–20 |
| BAP1 | 3p21.1 | – | RCC, uveal melanoma, mesothelioma, BCC, cholangiocarcinoma | Bone, bladder, breast, colorectal, lung adenocarcinoma, meningioma, neuroendocrine, ovarian, paraganglioma, stomach, thyroid | 21–36 |
| MITF | 3p14.2 | Possibly MC1R | RCC, pancreas | Bladder, brain (glioblastoma), breast, colorectal, endometrial, leukaemia, lung, lymphoma, myeloma, prostate, stomach | 55, 56, 58 |
| TERT | 5p15.33 | – | – | Bladder, breast, endometrial, lung, ovarian, renal | 43, 44 |
| POT1 | 7q31.33 | – | Glioma | Brain, breast, CLL, endometrial, leukaemia, thyroid, SCLC | 39, 40, 90, 91 |
| ACD | 16q22.1 | – | – | Breast, colorectal, leukaemia, lung, lymphoma | 42 |
| TERF2IP | 16q23.1 | – | – | Breast, cervix, meningioma, ovarian | 42 |
*Possibly associated cancers include those documented in pedigrees of affected individuals and their non-wild type untested family members.
BCC, basal cell carcinoma; CLL, chronic lymphocytic leukaemia; ENT, ear, nose, and throat; RCC, renal cell carcinoma; SCLC, small cell lung cancer; UVR, ultraviolet radiation.