Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, <i>ATM, BAP1,</i> and <i>POT1</i>

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, <i>ATM, BAP1,</i> and <i>POT1</i>

The contribution of recently established or candidate susceptibility genes to melanoma missing heritability has yet to be determined. Multigene panel testing could increase diagnostic yield and better define the role of candidate genes. We characterized 273 <i>CDKN2A/ARF</i> and <i>...

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Main Authors: Lorenza Pastorino, Virginia Andreotti, Bruna Dalmasso, Irene Vanni, Giulia Ciccarese, Mario Mandalà, Giuseppe Spadola, Maria Antonietta Pizzichetta, Giovanni Ponti, Maria Grazia Tibiletti, Elena Sala, Maurizio Genuardi, Pietro Chiurazzi, Gabriele Maccanti, Siranoush Manoukian, Serena Sestini, Rita Danesi, Valentina Zampiga, Roberta La Starza, Ignazio Stanganelli, Alberto Ballestrero, Luca Mastracci, Federica Grillo, Stefania Sciallero, Federica Cecchi, Enrica Teresa Tanda, Francesco Spagnolo, Paola Queirolo, Italian Melanoma Intergroup (IMI), Alisa M. Goldstein, William Bruno, Paola Ghiorzo
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:Cancers
Subjects:
familial melanoma
genetic susceptibility
gene panel sequencing
high-penetrance genes
variant interpretation
missing heritability
Online Access:https://www.mdpi.com/2072-6694/12/4/1007

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https://www.mdpi.com/2072-6694/12/4/1007

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