Melanoma, Cutaneous Malignant, Susceptibility To, 6

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CDKN2A, MC1R, MGMT, CDK4, CDKN2B, ACD, TERF2IP, POT1, BAP1, TERT, MITF, H3P10, CMM, IFNA13, IFNA2, IFNA1, HRAS, IFN1@, IFNA17, XPA, CHRM1, HPRT1, XRS, TP53, TYR, PTH, NPPA, MYCL, CDK2, BRCA2

Drugs

Aldesleukin ( PROLEUKIN ), HLA-A2 restricted CD8 T-cell line expressing MART-1 T-cell receptor, Imexon

Aldesleukin ( PROLEUKIN ), HLA-A2 restricted CD8 T-cell line expressing MART-1 T-cell receptor, Imexon, Melphalan ( EVOMELA, ALKERAN ), Oblimersen

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A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-6 (CMM6) is conferred by variation in the XRCC3 gene (600675) on chromosome 14q32.

Description

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).

For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600.

Molecular Genetics

Exposure to UV radiation is a major risk factor for the development of malignant melanoma. DNA damage caused by UV radiation is thought to play a major role in carcinogenesis. In an investigation of the association between polymorphisms in DNA repair genes and the development of malignant melanoma, Winsey et al. (2000) studied 125 individuals with malignant melanoma lesions or staging suggesting a high risk of relapse or metastatic disease. They found that the presence of a T allele at position 18067 in exon 7 of the XRCC3 gene (600675.0001) was significantly associated with melanoma development (p = 0.004; odds ratio, 2.36; relative risk, 1.74).