Common ERBB2 polymorphisms and risk of breast cancer in a white British population:: a case-control study

被引:56
作者
Benusiglio, PR [1 ]
Lesueur, F
Luccarini, C
Conroy, DM
Shah, M
Easton, DF
Day, NE
Dunning, AM
Pharoah, PD
Ponder, BAJ
机构
[1] Univ Cambridge, Dept Oncol, Strangeways Res Labs, Cambridge, England
[2] Univ Cambridge, Dept Genet Epidemiol, Strangeways Res Labs, Cambridge, England
[3] Univ Cambridge, EPIC, Strangeways Res Labs, Cambridge, England
来源
BREAST CANCER RESEARCH | 2005年 / 7卷 / 02期
关键词
breast cancer; case-control study; ERBB2; haplotype; single-nucleotide polymorphism;
D O I
10.1186/bcr982
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Introduction About two-thirds of the excess familial risk associated with breast cancer is still unaccounted for and may be explained by multiple weakly predisposing alleles. A gene thought to be involved in low-level predisposition to the disease is ERBB2 (HER2). This gene is involved in cell division, differentiation, and apoptosis and is frequently amplified in breast tumours. Its amplification correlates with poor prognosis. Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer. Methods We aimed to determine if common polymorphisms (frequency >= 5%) in ERBB2 were associated with breast cancer risk in a white British population. Five single-nucleotide polymorphisms (SNPs) were selected for study: SNP 1 near the promoter, SNP 2 in intron 1, SNP 3 in intron 4, SNP 4 in exon 17 (I655V), and SNP 5 in exon 27 (A1170P). We tested their association with breast cancer in a large case-control study (n = 2192 cases and 2257 controls). Results There were no differences in genotype frequencies between cases and controls for any of the SNPs examined. To investigate the possibility that a common polymorphism not included in our study might be involved in breast cancer predisposition, we also constructed multilocus haplotypes. Our set of SNPs generated all existing (n = 6) common haplotypes and no differences were seen in haplotype frequencies between cases and controls (P = 0.44). Conclusions In our population, common ERBB2 polymorphisms are not involved in predisposition to breast cancer.
引用
收藏
页码:R204 / R209
页数:6
相关论文
共 26 条
  • [1] ARMITAGE P, 1994, STAT METHODS MED RES, P195
  • [2] Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk
    Baxter, SW
    Campbell, IG
    [J]. JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2001, 93 (07) : 557 - 558
  • [3] Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease
    Beral, V
    Bull, D
    Doll, R
    Peto, R
    Reeves, G
    [J]. LANCET, 2001, 358 (9291) : 1389 - 1399
  • [4] Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
    Carlson, CS
    Eberle, MA
    Rieder, MJ
    Yi, Q
    Kruglyak, L
    Nickerson, DA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (01) : 106 - 120
  • [5] CHEN YY, 1994, ONCOGENE, V9, P2269
  • [6] Problems of reporting genetic associations with complex outcomes
    Colhoun, HM
    McKeigue, PM
    Smith, GD
    [J]. LANCET, 2003, 361 (9360) : 865 - 872
  • [7] Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations
    Crawford, DC
    Carlson, CS
    Rieder, MJ
    Carrington, DP
    Yi, Q
    Smith, JD
    Eberle, MA
    Kruglyak, L
    Nickerson, DA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (04) : 610 - 622
  • [8] Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites
    Cui, J
    Zhou, XF
    Chazaro, I
    DeStefano, AL
    Manolis, AJ
    Baldwin, CT
    Gavras, H
    [J]. AMERICAN JOURNAL OF HYPERTENSION, 2003, 16 (10) : 859 - 863
  • [9] Day N, 1999, BRIT J CANCER, V80, P95
  • [10] LDA - a java']java-based linkage disequilibrium analyzer
    Ding, KY
    Zhou, KX
    He, FC
    Shen, Y
    [J]. BIOINFORMATICS, 2003, 19 (16) : 2147 - 2148