RASSF1A polymorphism in familial breast cancer

被引：13

作者：

Bergqvist, J. ^{[1
]}

Latif, A. ^{[1
]}

Roberts, S. A. ^{[2
]}

Hadfield, K. D. ^{[1
]}

Lalloo, F. ^{[1
]}

Howell, A. ^{[3
,4
,5
]}

Evans, D. G. ^{[1
,3
,4
]}

Newman, W. G. ^{[1
]}

机构：

[1] Univ Manchester, St Marys Hosp, MAHSC, Manchester M13 9WL, Lancs, England

[2] Univ Manchester, Hlth Res Methodol Grp, Manchester M13 9WL, Lancs, England

[3] Wythenshawe Hosp, Nightingale Ctr, Manchester M23 9LT, Lancs, England

[4] Wythenshawe Hosp, Genesis Prevent Ctr, Manchester M23 9LT, Lancs, England

[5] Univ Manchester, Dept Med Oncol, Christie NHS Fdn Trust Res, Manchester M13 9WL, Lancs, England

来源：

FAMILIAL CANCER | 2010年 / 9卷 / 03期

关键词：

BRCA1; BRCA2; Breast cancer; Familial; RASSF1A; TUMOR-SUPPRESSOR RASSF1A; GENOME-WIDE ASSOCIATION; SCORING SYSTEM; MUTATION;

D O I：

10.1007/s10689-010-9335-8

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Inactivation or loss of the tumour suppressor Ras associated domain family 1 isoform A (RASSF1A) allele has been described in breast cancer. Recently, a missense polymorphism predicting p.A331S in RASSF1A was associated with an increased risk of breast cancer and early-onset breast cancer in BRCA1 and BRCA2 mutation carriers. We genotyped p.A331S RASSF1A in 854 independent, familial, white breast cancer patients (645 BRCA mutation negative, 119 BRCA1 and 90 BRCA2 positive) and compared the genotype in 331 healthy women. The RASSF1A p.A331S variant was not more common in the familial breast cancer cases than in the controls (P = 0.27). Subset analysis demonstrated no association in the BRCA1 (P = 0.26), BRCA2 (P = 0.16) or BRCA negative (P = 0.30) samples. Hence, the RASSF1A p.A331S polymorphism is not confirmed as a significant germline contributor to familial breast cancer susceptibility.

引用

页码：263 / 265

页数：3

共 13 条

[11] Breast cancer susceptibility variants alter risks in familial disease [J].

Latif, Ayse ;

Hadfield, Kristen D. ;

Roberts, Stephen A. ;

Shenton, Andrew ;

Lalloo, Fiona ;

Black, Graeme C. M. ;

Howell, Anthony ;

Evans, D. Gareth ;

Newman, William G. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (02) :126-131

[12]

*NICE, 2006, 41 NICE

[13]

Schagdarsurengin U, 2005, INT J ONCOL, V27, P185

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