Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series

BACKGROUND: Concurrent germline (g) pathogenic variants related to hereditary breast cancer represent a rare occurrence. While double heterozygosity in gBRCA1 and gBRCA2 has been reported in the past, herein we describe the first case of three known concurrent pathogenic variants identified in a fam...

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Detalles Bibliográficos
Autores principales: Sukumar, Jasmine, Kassem, Mahmoud, Agnese, Doreen, Pilarski, Robert, Ramaswamy, Bhuvaneswari, Sweet, Kevin, Sardesai, Sagar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990865/
https://www.ncbi.nlm.nih.gov/pubmed/33507482
http://dx.doi.org/10.1007/s10549-021-06095-w

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