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Article

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

Human mutation - 1 Nov 2009

Li Lili, Biswas Kajal, Habib Laura Anne, Kuznetsov Sergey G, Hamel Nancy, Kirchhoff Tomas, Wong Nora, Armel Susan, Chong George, Narod Steven A, Claes Kathleen, Offit Kenneth, Robson Mark E, Stauffer Stacey, Sharan Shyam K, Foulkes William D

Abstract excerpt

Variants of unknown significance (VUS) in BRCA1 and BRCA2 are common, and present significant challenges for genetic counseling. We observed that BRCA2: c.6853A>G (p.I2285V) (Breast Cancer Information Core [BIC] name: 7081A>G; http://research.nhgri.nih.gov/bic/) co-occurs in trans with the founder mutation c.5946delT (p.S1982RfsX22) (BIC name: 6174delT), supporting the published classification of p.I2285V as a...

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Identifiers

PMID: 19795481
DOI: 10.1002/humu.21101
PMCID: PMC3501199

Genes

BRCA2
BRCA1

Variants

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