Ontology highlight
ABSTRACT:
SUBMITTER: Pastorino L
PROVIDER: S-EPMC7226507 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Pastorino Lorenza L Andreotti Virginia V Dalmasso Bruna B Vanni Irene I Ciccarese Giulia G Mandalà Mario M Spadola Giuseppe G Pizzichetta Maria Antonietta MA Ponti Giovanni G Tibiletti Maria Grazia MG Sala Elena E Genuardi Maurizio M Chiurazzi Pietro P Maccanti Gabriele G Manoukian Siranoush S Sestini Serena S Danesi Rita R Zampiga Valentina V La Starza Roberta R Stanganelli Ignazio I Ballestrero Alberto A Mastracci Luca L Grillo Federica F Sciallero Stefania S Cecchi Federica F Tanda Enrica Teresa ET Spagnolo Francesco F Queirolo Paola P Italian Melanoma Intergroup (IMI) Goldstein Alisa M AM Bruno William W Ghiorzo Paola P
Cancers 20200419 4
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>CDK4-</i>negative probands through a custom-designed targeted gene panel that included <i>CDKN2A/ARF, CDK4, ACD, BAP1, MITF, POT1, TERF2IP, ATM,</i> and <i>PALB2.</i> Co-segregation, loss of heterozygosity (LOH)/prote ...[more]