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Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer.

Cancer genetics - 1 Jan 2022

Mampel Alejandra, Sottile Mayra L, Denita-Juárez Silvina P, Vargas Ana L, Vargas-Roig Laura M

Abstract excerpt

Double heterozygosity pathogenic variants in BRCA1 and BRCA2 genes are a very rare finding, particularly in non-Ashkenazi individuals. We described the first case of double heterozygosity variants in a non-Ashkenazi Argentinean woman with metachronous bilateral breast cancer. The proband is a 65-year-old female diagnosed with invasive ductal carcinoma in the left breast at 45 years old and invasive carcinoma in...

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PMID: 34801929
DOI: 10.1016/j.cancergen.2021.11.003

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