Subsequently, a novel POT1 mutation has been reported in a family with multiple cases of primary melanomas, as well as other kind of cancers [51], suggesting that a broader range of cancers may be associated to predisposing mutations in POT1. A large-population study was carried out in 694 Austrian patients to assess the role of POT1 germline mutations in predisposing familial melanoma [52]. Here, POT1 is linked to melanoma.