导致共济失调毛细血管扩张症的ATM突变是乳腺癌易感等位基因。

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

作者信息

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

机构信息

Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.

出版信息

Nat Genet. 2006 Aug;38(8):873-5. doi: 10.1038/ng1837. Epub 2006 Jul 9.

DOI:10.1038/ng1837

PMID:16832357

Abstract

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.

摘要

我们对来自443个家族性乳腺癌系谱的个体和521名对照进行了ATM序列变异筛查，在患病个体中鉴定出12个突变，在对照中鉴定出2个突变（P = 0.0047）。结果表明，在双等位基因携带者中导致共济失调毛细血管扩张症的ATM突变在单等位基因携带者中是乳腺癌易感等位基因，估计相对风险为2.37（95%置信区间（c.i.）= 1.51 - 3.78，P = 0.0003）。没有证据表明其他类型的ATM变异会增加患乳腺癌的风险。