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Article

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Cancer research - 15 Feb 2007

Carvalho Marcelo A, Marsillac Sylvia M, Karchin Rachel, Manoukian Siranoush, Grist Scott, Swaby Ramona F, Urmenyi Turan P, Rondinelli Edson, Silva Rosane, Gayol Luis, Baumbach Lisa, Sutphen Rebecca, Pickard-Brzosowicz Jennifer L, Nathanson Katherine L, Sali Andrej, Goldgar David, Couch Fergus J, Radice Paolo, Monteiro Alvaro N A

Abstract excerpt

Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear. Determination of which variants are causally associated with cancer is important for assessment of individual risk. We used a functional assay that measures the transactivation activity of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17308087
DOI: 10.1158/0008-5472.CAN-06-3297
PMCID: PMC2936786

Genes

BRCA1

Variants

Provenance

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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