HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

Abstract:

:ERBB2 is frequently amplified in breast tumours as part of a wide region of amplification on chromosome 17q21. This amplicon contains many candidate genes for breast cancer susceptibility. We used a genetic association study design to determine if common genetic variation (frequency>or=5%) in a 400-kb region surrounding ERBB2 and containing the PPARBP, CRK7, NEUROD2, PPP1R1B, STARD3, TCAP, PNMT, CAB2, ERBB2, C17ORF37, GRB7 and ZNFN1A3 genes, was associated with breast cancer risk. Sixteen tagging single-nucleotide polymorphisms (tSNPs) selected within blocks of linkage disequilibrium from the HapMap database, one HapMap singleton SNP, and six additional SNPs randomly selected from dbSNP were genotyped using Taqman in a large study set of British women (2275 cases, 2280 controls). We observed no association between any of the genotypes or associated haplotypes and disease risk. In order to simulate unidentified SNPs, we performed the leave-one-out cross-validation procedure on the HapMap data; over 90% of the common genetic variation was well represented by tagging polymorphisms. We are therefore likely to have tagged any common variants present in our population. In summary, we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.

journal_name

Br J Cancer

authors

Benusiglio PR,Pharoah PD,Smith PL,Lesueur F,Conroy D,Luben RN,Dew G,Jordan C,Dunning A,Easton DF,Ponder BA

doi

10.1038/sj.bjc.6603473

subject

Has Abstract

pub_date

2006-12-18 00:00:00

pages

1689-95

issue

12

eissn

0007-0920

issn

1532-1827

pii

6603473

journal_volume

95

pub_type

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