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A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes.

Breast cancer (Tokyo, Japan) - 1 Sept 2015

Nomizu Tadashi, Matsuzaki Masami, Katagata Naoto, Kobayashi Yusuke, Sakuma Takeshi, Monma Tomoyuki, Saito Motonobu, Watanabe Fumiaki, Midorikawa Shinichi, Yamaguchi Yoshiko

Abstract excerpt

We report an extremely rare case of familial breast cancer with deleterious germline mutations in both BRCA1 and BRCA2 genes, of which, to date, no such case has been reported among Japanese breast/ovarian cancer patients. Genetic testing of the family members indicated that the same double heterozygosity for BRCA1 and BRCA2 genes was transmitted to the paternal cousin, and the same BRCA2 mutation to the younger...

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Identifiers

PMID: 23242612
DOI: 10.1007/s12282-012-0432-4

Genes

BRCA2
BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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