POT1 loss-of-function variants predispose to familial melanoma

@inproceedings{RoblesEspinoza2014POT1LV,
  title={POT1 loss-of-function variants predispose to familial melanoma},
  author={Carla Daniela Robles-Espinoza and Mark Harland and Andrew J. Ramsay and Lauren G. Aoude and V{\'i}ctor Quesada and Zhihao Ding and Karen A. Pooley and Antonia L Pritchard and Jessamy C. Tiffen and Mia Petljak and Jane M. Palmer and Judith M Symmons and Peter A Johansson and Mitchell S. Stark and Michael G. Gartside and Helen Snowden and Grant W. Montgomery and Nicholas G. Martin and Jimmy Zhenli Liu and Jiyeon Choi and Matthew M. Makowski and Kevin M Brown and Alison M. Dunning and Thomas M Keane and Carlos L{\'o}pez-Ot{\'i}n and Nelleke A. Gruis and N. K. Hayward and D Timothy Bishop and Julia A. Newton-Bishop and David J. Adams},
  booktitle={Nature Genetics},
  year={2014}
}
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 predisposition genes. We identified families where melanoma cosegregates with loss-of… CONTINUE READING
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