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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Detalles Bibliográficos
Autores principales: van Luttikhuizen, Jana Lisa, Bublitz, Janin, Schubert, Stephanie, Schmidt, Gunnar, Hofmann, Winfried, Morlot, Susanne, Buurman, Reena, Auber, Bernd, Schlegelberger, Brigitte, Steinemann, Doris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506983/
https://www.ncbi.nlm.nih.gov/pubmed/31724318
http://dx.doi.org/10.1002/mgg3.1045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506983/
https://www.ncbi.nlm.nih.gov/pubmed/31724318
http://dx.doi.org/10.1002/mgg3.1045

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