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Article

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

Journal of human genetics - 1 Sept 2013

Kawaku Shogo, Sato Rieko, Song Hao, Bando Yuko, Arinami Tadao, Noguchi Emiko

Abstract excerpt

Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of Japanese patients suspected of having hereditary breast and ovarian cancers. The clinical...

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Source

Identifiers

PMID: 23842040
DOI: 10.1038/jhg.2013.71

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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