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Article

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.

Breast cancer research and treatment - 1 Dec 2011

Zhang Liying, Chen Lishi, Bacares Ruben, Ruggeri Jeanine M, Somar Joshua, Kemel Yelena, Stadler Zsofia K, Offit Kenneth

Abstract excerpt

Mutation screening of the breast and ovarian cancer predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare non-truncating sequence variants in the BRCA1 and BRCA2 genes is problematic because it is not known whether these subtle changes alter function sufficiently to predispose cells to cancer development. The BRCA1 331G > A substitution...

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Source

Identifiers

PMID: 21863257
DOI: 10.1007/s10549-011-1732-7

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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BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.PMID 21863257Read ↗

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