MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
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DOI：
10.1038/gim.2017.254
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Chung WK
中科院分区：
文献类型：
--
作者：
Roberts ME;Jackson SA;Susswein LR;Zeinomar N;Ma X;Marshall ML;Stettner AR;Milewski B;Xu Z;Solomon BD;Terry MB;Hruska KS;Klein RT;Chung WK
An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually. We conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data). When evaluating by gene, the age-standardized breast cancer risks for MSH6 (SIR = 2.11; 95% confidence interval (CI), 1.56–2.86) and PMS2 (SIR = 2.92; 95% CI, 2.17–3.92) were associated with a statistically significant risk for breast cancer whereas no association was observed for MLH1 (SIR = 0.87; 95% CI, 0.42–1.83) or MSH2 (SIR = 1.22; 95% CI, 0.72–2.06). Our data demonstrate that two LS genes, MSH6 and PMS2, are associated with an increased risk for breast cancer and should be considered when ordering genetic testing for individuals who have a personal and/or family history of breast cancer.
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影响因子：
1.7
作者：
Dębniak T;Gromowski T;Scott RJ;Gronwald J;Huzarski T;Byrski T;Kurzawski G;Dymerska D;Górski B;Paszkowska-Szczur K;Cybulski C;Serrano-Fernandez P;Lubiński J
通讯作者：
Lubiński J
影响因子：
2.2
作者：
Shanley, S.;Fung, C.;Kirk, J.
通讯作者：
Kirk, J.
影响因子：
3.5
作者：
Barrow, E.;Robinson, L.;Evans, D. G.
通讯作者：
Evans, D. G.
影响因子：
3.8
作者：
Jensen, Uffe Birk;Sunde, Lone;Nilbert, Mef
通讯作者：
Nilbert, Mef
DOI：
10.1186/bcr3205
发表时间：
2012-06-12
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Lotsari JE;Gylling A;Abdel-Rahman WM;Nieminen TT;Aittomäki K;Friman M;Pitkänen R;Aarnio M;Järvinen HJ;Mecklin JP;Kuopio T;Peltomäki P
通讯作者：
Peltomäki P