期刊
MELANOMA RESEARCH
卷 19, 期 3, 页码 142-145出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/CMR.0b013e32832a1e18
关键词
amelanotic melanoma; CDKN2A; MC1R; mutation; p14ARF
资金
- EU FP6 GenoMEL Network of Excellence (2005-2010)
- Genoa Athaeneum Grant 2006
- ACC funding 2007
Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and testing them for germline mutations in high(p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas. A p14ARF splice germline mutation was detected for the first time in an Italian family with AM. This rare mutation, which has been described only once previously, may be involved in predisposition to the amelanotic phenotype in combination with germline MC1R variants and coordinate somatic expression of pigmentation genes and their regulators. Melanoma Res 19:142-145 (C) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
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