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Article

Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

Journal of human genetics - 1 Jan 2004

Kawahara Masanori, Sakayori Masato, Shiraishi Kazuko, Nomizu Tadashi, Takeda Motohiro, Abe Rikiya, Ohuchi Noriaki, Takenoshita Seiichi, Ishioka Chikashi

Abstract excerpt

We sequenced approximately 23 kb genomic regions containing all the coding exons and their franking introns of two breast cancer susceptibility genes, BRCA1 and BRCA2, of 55 individuals from 50 unrelated Japanese breast cancer families. We identified 55 single-nucleotide polymorphisms (SNPs) (21 in BRCA1 and 34 in BRCA2) containing nine pathogenic protein-truncating mutations (four in BRCA1 and five in BRCA2 from...

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Identifiers

PMID: 15168169
DOI: 10.1007/s10038-004-0160-5

Genes

BRCA1
BRCA2

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

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