Table 2

Melanoma predisposition genes and associations with other cancers

GeneChromosome bandModifiersAssociated non-cutaneous melanoma cancersPossibly associated cancers*References
CDKN2A9p21MC1R, UVR, possibly tobacco smokePancreasENT (tongue, oral cavity, pharynx, larynx), upper digestive (oesophagus, stomach), brain, breast, cervix, gall bladder, thyroid, leukaemia, liver, lung, lymphoma, renal5, 6, 85, 86
CDK412q14Breast, cervix, colorectal, lung, lymphoma, pancreas, stomach, uterine17–20
BAP13p21.1RCC, uveal melanoma, mesothelioma, BCC, cholangiocarcinomaBone, bladder, breast, colorectal, lung adenocarcinoma, meningioma, neuroendocrine, ovarian, paraganglioma, stomach, thyroid21–36
MITF3p14.2Possibly MC1RRCC, pancreasBladder, brain (glioblastoma), breast, colorectal, endometrial, leukaemia, lung, lymphoma, myeloma, prostate, stomach55, 56, 58
TERT5p15.33Bladder, breast, endometrial, lung, ovarian, renal43, 44
POT17q31.33GliomaBrain, breast, CLL, endometrial, leukaemia, thyroid, SCLC39, 40, 90, 91
ACD16q22.1Breast, colorectal, leukaemia, lung, lymphoma42
TERF2IP16q23.1Breast, cervix, meningioma, ovarian42
  • *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.