Ontology highlight
ABSTRACT:
SUBMITTER: Shi J
PROVIDER: S-EPMC4056593 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
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]