Ontology highlight
ABSTRACT:
SUBMITTER: Shi J
PROVIDER: S-EPMC4056593 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Shi Jianxin J Yang Xiaohong R XR Ballew Bari B Rotunno Melissa M Calista Donato D Fargnoli Maria Concetta MC Ghiorzo Paola P Bressac-de Paillerets Brigitte B Nagore Eduardo E Avril Marie Francoise MF Caporaso Neil E NE McMaster Mary L ML Cullen Michael M Wang Zhaoming Z Zhang Xijun X Bruno William W Pastorino Lorenza L Queirolo Paola P Banuls-Roca Jose J Garcia-Casado Zaida Z Vaysse Amaury A Mohamdi Hamida H Riazalhosseini Yasser Y Foglio Mario M Jouenne Fanélie F Hua Xing X Hyland Paula L PL Yin Jinhu J Vallabhaneni Haritha H Chai Weihang W Minghetti Paola P Pellegrini Cristina C Ravichandran Sarangan S Eggermont Alexander A Lathrop Mark M Peris Ketty K Scarra Giovanna Bianchi GB Landi Giorgio G Savage Sharon A SA Sampson Joshua N JN He Ji J Yeager Meredith M Goldin Lynn R LR Demenais Florence F Chanock Stephen J SJ Tucker Margaret A MA Goldstein Alisa M AM Liu Yie Y Landi Maria Teresa MT
Nature genetics 20140330 5
Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that th ...[more]