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Article

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.

International journal of molecular sciences - 18 Oct 2023

Madar László, Majoros Viktória, Szűcs Zsuzsanna, Nagy Orsolya, Babicz Tamás, Butz Henriett, Patócs Attila, Balogh István, Koczok Katalin

Abstract excerpt

Hereditary breast cancer is most commonly attributed to germline BRCA1 and BRCA2 gene variants. The vast majority of BRCA1 and BRCA2 mutation carriers are single heterozygotes, and double heterozygosity (DH) is a very rare finding. Here, we describe the case of a BRCA1/BRCA2 double heterozygous female proband diagnosed with breast cancer. Genetic testing for hereditary breast and ovarian cancer revealed two...

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Identifiers

PMID: 37895014
DOI: 10.3390/ijms242015334
PMCID: PMC10607119

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