ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

被引：548

作者：

Renwick, Anthony

Thompson, Deborah

Seal, Sheila

Kelly, Patrick

Chagtai, Tasnim

Ahmed, Munaza

North, Bernard

Jayatilake, Hiran

Barfoot, Rita

Spanova, Katarina

McGuffog, Lesley

Evans, D. Gareth

Eccles, Diana

Easton, Douglas F.

Stratton, Michael R.

Rahman, Nazneen

机构：

[1] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

[2] Univ Cambridge, Canc Res UK, Genet Epidemiol Unit, Strangeways Res Labs, Cambridge CB1 8RN, England

[3] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England

[4] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 6YA, Hants, England

[5] Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England

来源：

NATURE GENETICS | 2006年 / 38卷 / 08期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng1837

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51 - 3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.

引用

页码：873 / 875

页数：3

共 14 条

[1] Polygenic inheritance of breast cancer: Implications for design of association studies [J].

Antoniou, AC ;

Easton, DF .

GENETIC EPIDEMIOLOGY, 2003, 25 (03) :190-202

[2] Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity [J].

Becker-Catania, SG ;

Chen, G ;

Hwang, MJ ;

Wang, ZJ ;

Sun, X ;

Sanal, O ;

Bernatowska-Matuszkiewicz, E ;

Chessa, L ;

Lee, EYHP ;

Gatti, RA .

MOLECULAR GENETICS AND METABOLISM, 2000, 70 (02) :122-133

[3]

Chenevix-Trench G, 2002, JNCI-J NATL CANCER I, V94, P205, DOI 10.1093/jnci/94.3.205

[4]

Easton D, 2004, AM J HUM GENET, V74, P1175, DOI 10.1086/421251

[5] Heterozygous ATM mutations do not contribute to early onset of breast cancer [J].

FitzGerald, MG ;

Bean, JM ;

Hegde, SR ;

Unsal, H ;

MacDonald, DJ ;

Harkin, DP ;

Finkelstein, DM ;

Isselbacher, KJ ;

Haber, DA .

NATURE GENETICS, 1997, 15 (03) :307-310

[6] Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations [J].

Gatti, RA ;

Tward, A ;

Concannon, P .

MOLECULAR GENETICS AND METABOLISM, 1999, 68 (04) :419-423

[7] Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations [J].

Meijers-Heijboer, H ;

van den Ouweland, A ;

Klijn, J ;

Wasielewski, M ;

de Snoo, A ;

Oldenburg, R ;

Hollestelle, A ;

Houben, M ;

Crepin, E ;

van Veghel-Plandsoen, M ;

Elstrodt, F ;

van Duijn, C ;

Bartels, C ;

Meijers, C ;

Schutte, M ;

McGuffog, L ;

Thompson, D ;

Easton, DF ;

Sodha, N ;

Seal, S ;

Barfoot, R ;

Mangion, J ;

Chang-Claude, J ;

Eccles, D ;

Eeles, R ;

Evans, DG ;

Houlston, R ;

Murday, V ;

Narod, S ;

Peretz, T ;

Peto, J ;

Phelan, C ;

Zhang, HX ;

Szabo, C ;

Devilee, P ;

Goldgar, D ;

Futreal, PA ;

Nathanson, KL ;

Weber, BL ;

Rahman, N ;

Stratton, MR .

NATURE GENETICS, 2002, 31 (01) :55-59

[8] Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia [J].

Olsen, JH ;

Hahnemann, JMD ;

Borresen-Dale, AL ;

Tretli, S ;

Kleinerman, R ;

Sankila, R ;

Hammarström, L ;

Robsahm, T ;

Kääriäinen, H ;

Bregård, A ;

Brondum-Nielsen, K ;

Yuen, J ;

Tucker, M .

BRITISH JOURNAL OF CANCER, 2005, 93 (02) :260-265

[9] ATM and related protein kinases: Safeguarding genome integrity [J].

Shiloh, Y .

NATURE REVIEWS CANCER, 2003, 3 (03) :155-168

[10] ATM missense mutations are frequent in patients with breast cancer [J].

Sommer, SS ;

Jiang, ZF ;

Feng, JM ;

Buzin, CH ;

Zheng, J ;

Longmate, J ;

Jung, M ;

Moulds, J ;

Dritschilo, A .

CANCER GENETICS AND CYTOGENETICS, 2003, 145 (02) :115-120

← 1 2 →