Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.

doi:10.1038/srep14800

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Article

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.

Scientific reports - 12 Oct 2015

Thompson Ella R, Gorringe Kylie L, Rowley Simone M, Li Na, McInerny Simone, Wong-Brown Michelle W, Devereux Lisa, Li Jason, Trainer Alison H, Mitchell Gillian, Scott Rodney J, James Paul A, Campbell Ian G

Abstract excerpt

The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed whether this...

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PMID: 26455428
DOI: 10.1038/srep14800
PMCID: PMC4601142

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BRCA2

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