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01-09-2015 | Case Report

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

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

Published in: Breast Cancer | Issue 5/2015

Abstract

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 sister with bilateral breast cancer, younger brother with stomach cancer, and proband’s son and daughter without cancer. Immunohistochemical analysis of BRCA protein expression was performed using breast cancer tissues from the proband with double heterozygosity for BRCA1 and BRCA2 genes and from her sibling without BRCA1 mutation but with BRCA2 mutation. There was no staining of either BRCA in the proband and no staining of BRCA2 in the sibling.

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Title: A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes
Authors: Tadashi Nomizu
Masami Matsuzaki
Naoto Katagata
Yusuke Kobayashi
Takeshi Sakuma
Tomoyuki Monma
Motonobu Saito
Fumiaki Watanabe
Shinichi Midorikawa
Yoshiko Yamaguchi
Publication date: 01-09-2015
Publisher: Springer Japan
Published in: Breast Cancer / Issue 5/2015
Print ISSN: 1340-6868
Electronic ISSN: 1880-4233
DOI: https://doi.org/10.1007/s12282-012-0432-4

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