ATM heterozygosity and cancer risk

被引:39
作者
Concannon, P [1 ]
机构
[1] Virginia Mason Res Ctr, Mol Genet Program, Seattle, WA 98101 USA
关键词
D O I
10.1038/ng0902-89
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Biallelic mutations in ATM cause the recessive disorder ataxia-telangiectasia that is characterized by an increased susceptibility to cancer, but the link between single-copy ATM mutations and cancer has been more difficult to establish. New studies implicate missense mutations in ATM and suggest a model based on dominant interference in heterozygotes.
引用
收藏
页码:89 / 90
页数:2
相关论文
共 16 条
[1]   Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer [J].
Athma, P ;
Rappaport, R ;
Swift, M .
CANCER GENETICS AND CYTOGENETICS, 1996, 92 (02) :130-134
[2]  
Chenevix-Trench G, 2002, JNCI-J NATL CANCER I, V94, P205, DOI 10.1093/jnci/94.3.205
[3]  
Dörk T, 2001, CANCER RES, V61, P7608
[4]   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
[5]   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
[6]   Cancer risk in heterozygotes for ataxia-telangiectasia [J].
Geoffroy-Perez, B ;
Janin, N ;
Ossian, K ;
Laugé, A ;
Croquette, MF ;
Griscelli, C ;
Debré, M ;
Bressac-De-Paillerets, B ;
Aurias, A ;
Stoppa-Lyonnet, D ;
Andrieu, N .
INTERNATIONAL JOURNAL OF CANCER, 2001, 93 (02) :288-293
[7]   Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia [J].
Inskip, HM ;
Kinlen, LJ ;
Taylor, AMR ;
Woods, CG ;
Arlett, CF .
BRITISH JOURNAL OF CANCER, 1999, 79 (7-8) :1304-1307
[8]   Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries [J].
Olsen, JH ;
Hahnemann, JM ;
Borresen-Dale, AL ;
Brondum-Nielsen, K ;
Hammarström, L ;
Kleinerman, R ;
Käätriäinen, H ;
Lönnqvist, T ;
Sankila, R ;
Seersholm, N ;
Tretli, S ;
Yuen, J ;
Boice, JD ;
Tucker, M .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2001, 93 (02) :121-127
[9]   Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer [J].
Scott, SP ;
Bendix, R ;
Chen, P ;
Clark, R ;
Dörk, T ;
Lavin, MF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (02) :925-930
[10]  
SPRING K, 2002, NATURE GENET, V32