Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.
Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.
复制标题
DOI：
10.1002/gepi.21971
复制
发表时间：
2016-07
影响因子：
2.1
通讯作者：
Parmigiani G
中科院分区：
文献类型：
--
作者：
Marabelli M;Cheng SC;Parmigiani G
导致共济失调毛细血管扩张综合征的基因ATM也是一种中等风险乳腺癌易感基因。已经进行了许多研究来确定ATM基因突变对乳腺癌（BC）风险的贡献。流行病学调查、分离分析和病例对照研究以不同形式报告了BC风险，包括发病率、相对危险度、标准化发病率和比值比。由于报告的估计值在定性和定量上都不同，我们开发了一个通用模型，可以整合文献中提供的不同类型的癌症风险。我们进行了一项综合的荟萃分析，确定了19项研究，并使用我们的模型获得了BC发生率的一致估计。ATM杂合突变携带者乳腺癌的累积风险估计为6.02%，50岁（95%可信区间：4.58-7.42%）和32.83%，80岁（95%可信区间：24.55-40.43%）。准确评估癌症的发病率是至关重要的，以便让突变携带者做出医疗和生活方式的决定，可以减少他们患上这种疾病的机会。
The gene responsible for ataxia telangiectasia syndrome, ATM, is also an intermediate-risk breast cancer susceptibility gene. Numerous studies have been carried out to determine the contribution of ATM gene mutations to breast cancer (BC) risk. Epidemiological surveys, segregation analyses and case-control studies reported BC risk in different forms, including penetrance, Relative Risk, Standardized Incidence Ratio and Odds Ratio. Since the reported estimates vary both qualitatively and quantitatively, we developed a general model allowing the integration of the different types of cancer risk available in the literature. We performed a comprehensive meta-analysis identifying 19 studies, and used our model to obtain a consensus estimate of BC penetrance. The cumulative risk of breast cancer in heterozygous ATM mutation carriers was estimated to be 6.02% by 50 years of age (95% credible interval: 4.58–7.42%) and 32.83% by 80 years of age (95% credible interval: 24.55–40.43%). An accurate assessment of cancer penetrance is crucial in order to allow mutation carriers to make medical and lifestyle decisions that can reduce their chances of developing the disease.
登录
查看更多内容
DOI：
10.1186/bcr2919
发表时间：
2011-07-25
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Goldgar DE;Healey S;Dowty JG;Da Silva L;Chen X;Spurdle AB;Terry MB;Daly MJ;Buys SM;Southey MC;Andrulis I;John EM;BCFR;kConFab;Khanna KK;Hopper JL;Oefner PJ;Lakhani S;Chenevix-Trench G
通讯作者：
Chenevix-Trench G
影响因子：
10.3
作者：
Thompson, D;Duedal, S;Easton, DF
通讯作者：
Easton, DF
DOI：
10.1089/109065700750065171
发表时间：
2000-12-01
期刊：
GENETIC TESTING
影响因子：
--
作者：
Kreiss, Y;Barak, F;Friedman, E
通讯作者：
Friedman, E
影响因子：
3.8
作者：
Swift, Michael;Lukin, Jennifer L.
通讯作者：
Lukin, Jennifer L.
影响因子：
3.8
作者：
Bogdanova, Natalia;Cybulski, Cezary;Doerk, Thilo
通讯作者：
Doerk, Thilo