Article
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.
Cancer epidemiology - 1 Dec 2011
Pedace Lucia, De Simone Paola, Castori Marco, Sperduti Isabella, Silipo Vitaliano, Eibenschutz Laura, De Bernardo Carmelilia, Buccini Pierluigi, Moscarella Elvira, Panetta Chiara, Ferrari Angela, Grammatico Paola, Catricalà Caterina
Abstract excerpt
CDKN2A is the most common, most penetrant gene whom germline mutations predisposing to cutaneous familial melanoma (FAM). Multiple primary melanoma (MPM), early age at onset, >2 affected members and pancreatic cancer are consistent features predicting positive test. However, the impact that cumulative clinical features have on the likelihood of molecular testing is unknown. In this work, genotype-phenotype...
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