From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing

BACKGROUND: Germline mutations in BRCA1/2 significantly contribute to hereditary breast and/or ovarian cancer. Here, we report a novel BRCA2 duplication of exons 22–24 in a female patient with bilateral breast cancer at age 35 and 44. The duplicated region was initially detected by gene panel sequen...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: van Luttikhuizen, Jana Lisa, Bublitz, Janin, Schubert, Stephanie, Schmidt, Gunnar, Hofmann, Winfried, Morlot, Susanne, Buurman, Reena, Auber, Bernd, Schlegelberger, Brigitte, Steinemann, Doris
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7506983/
https://ncbi.nlm.nih.gov/pubmed/31724318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1045
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