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

Breast cancer research and treatment - 1 Apr 2021

Sukumar Jasmine, Kassem Mahmoud, Agnese Doreen, Pilarski Robert, Ramaswamy Bhuvaneswari, Sweet Kevin, Sardesai Sagar

Abstract excerpt

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 family with a strong history of breast cancer. Case presentation The proband is a 55-year-old female diagnosed with...

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Identifiers

PMID: 33507482
DOI: 10.1007/s10549-021-06095-w
PMCID: PMC7990865

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