A McKenna

AA Al Olama

C Genomes Project

DH Teng

EK Amankwah

F Esashi

H Ahsan

H Li

H Song

J Long

K Claes

K Haraldsson

K Michailidou

K Schlacher

K Wu

KS Purrington

MA DePristo

MW Wong

N Johnson

N Mavaddat

R Wooster

S Mazoyer

S Sawyer

SG Kuznetsov

ST Martin

SV Tavtigian

TM Wagner

W Zheng

Scientific Reports

AbstractThe breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A &gt; 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 variant was enriched in a cohort of breast cancer cases ascertained through familial cancer clinics compared to population-based non-cancer controls using a targeted sequencing approach. We identified the variant in 66/2634 (2.5%) cases and 33/1996 (1.65%) controls, indicating an enrichment in the breast cancer cases (p = 0.047, OR 1.53, 95% CI 1.00–2.34). This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.</jats:p

Ella R. Thompson

Kylie L. Gorringe

Simone M. Rowley

Na Li

Simone McInerny

Michelle W. Wong-Brown

Lisa Devereux

Jason Li

Ian G. Campbell

John Hopper

Vicki Pridmore

Anne Kavanagh

Gillian Mitchell

Bruce Mann

Stephen Fox

Alison H. Trainer

Rodney J. Scott

Paul A. James

null null

Crossref

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

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

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

Abstract

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