Article
POT1 loss-of-function variants predispose to familial melanoma.
Nature genetics - 1 May 2014
Robles-Espinoza Carla Daniela, Harland Mark, Ramsay Andrew J, Aoude Lauren G, Quesada Víctor, Ding Zhihao, Pooley Karen A, Pritchard Antonia L, Tiffen Jessamy C, Petljak Mia, Palmer Jane M, Symmons Judith, Johansson Peter, Stark Mitchell S, Gartside Michael G, Snowden Helen, Montgomery Grant W, Martin Nicholas G, Liu Jimmy Z, Choi Jiyeon, Makowski Matthew, Brown Kevin M, Dunning Alison M, Keane Thomas M, López-Otín Carlos, Gruis Nelleke A, Hayward Nicholas K, Bishop D Timothy, Newton-Bishop Julia A, Adams David J
Abstract excerpt
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from 105 pedigrees recruited in the UK, The Netherlands and Australia that were negative for variants in known...
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