CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
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DOI：
10.1186/s12885-017-3631-8
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发表时间：
2017-09-05
期刊：
影响因子：
3.8
通讯作者：
Nevanlinna H
中科院分区：
文献类型：
--
作者：
Hallamies S;Pelttari LM;Poikonen-Saksela P;Jekunen A;Jukkola-Vuorinen A;Auvinen P;Blomqvist C;Aittomäki K;Mattson J;Nevanlinna H
Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast cancer genes in MBC is less well understood. In this study, we have genotyped 68 MBC patients for the known breast or ovarian cancer associated mutations in the Finnish population in CHEK2, PALB2, RAD51C, RAD51D, and FANCM genes. CHEK2 c.1100delC mutation was found in 4 patients (5.9%), which is significantly more frequent than in the control population (OR: 4.47, 95% CI 1.51–13.18, p = 0.019). Four CHEK2 I157T variants were also detected, but the frequency did not significantly differ from population controls (p = 0.781). No RAD51C, RAD51D, PALB2, or FANCM mutations were found. These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population. The online version of this article (10.1186/s12885-017-3631-8) contains supplementary material, which is available to authorized users.
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影响因子：
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作者：
Mamrak NE;Shimamura A;Howlett NG
通讯作者：
Howlett NG
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DOI：
10.1073/pnas.1407909111
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