No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

Authors:	Amanda?B?Spurdle author-information" > author-information__contact u-icon-before" > mailto:mandyS@qimr.edu.au" title=" mandyS@qimr.edu.au" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author,John?L?Hopper,Xiaoqing?Chen,Margaret?RE?McCredie,Graham?G?Giles,Beth?Newman,Georgia?Chenevix-Trench,KumKum?Khanna

Affiliation:	(1) Cancer and Cell Biology Division, The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland, Australia;(2) Centre for Genetic Epidemiology, University of Melbourne, Victoria, Australiayy;(3) Cancer Epidemiology Research Unit, The New South Wales Cancer Council, Kings Cross, Australia;(4) Department of Preventive and Social Medicine, University of Otago, Dunedin, New Zealand;(5) Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton, Victoria, Australia;(6) School of Public Health, Queensland University of Technology, Kelvin Grove, Queensland, Australia

Abstract:	Background There is evidence that certain mutations in the double-strand break repair pathway ataxia-telangiectasia mutated gene act in a dominant-negative manner to increase the risk of breast cancer. There are also some reports to suggest that the amino acid substitution variants T2119C Ser707Pro and C3161G Pro1054Arg may be associated with breast cancer risk. We investigate the breast cancer risk associated with these two nonconservative amino acid substitution variants using a large Australian population-based case–control study.

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