Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10-40% of melanoma-prone families. In our study we comprehensively characterized 488 melanoma cases from 451 non-CDKN2A/CDK4 families for mutations in 30 established and candidate melanoma susceptibility genes using a custom-designed targeted gene panel approach. We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). Among the three identified BAP1-families, there were no reported dia... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2019 |
Reihe/Periodikum: | Potjer , T P , Bollen , S , Grimbergen , A J E M , van Doorn , R , Gruis , N A , Asperen , C J , Hes , F J , van der Stoep , N & Dutch Working Group for Clinical Oncogenetics 2019 , ' Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. ' , International Journal of Cancer , vol. 144 , no. 10 , 31984 . https://doi.org/10.1002/ijc.31984 |
Schlagwörter: | MELANOMA / GENETICS / CANCER |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26670334 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/11370/19c97c3e-690d-4ba1-9ae0-f9aeb7936ca1 |