Article
Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.
Melanoma research - 1 Apr 2017
Borroni Riccardo G, Manganoni Ausilia M, Grassi Sara, Grasso Maurizia, Diegoli Marta, Giorgianni Carmela, Favalli Valentina, Pavoni Laura, Cespa Maddalena, Arbustini Eloisa
Abstract excerpt
Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1...
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