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Association of XRCC2 rs3218536 Polymorphism with Susceptibility of Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis.XRCC2基因rs3218536多态性与乳腺癌和卵巢癌易感性的关联：一项系统评价和荟萃分析
Asian Pac J Cancer Prev. 2017 Jul 27;18(7):1743-1749. doi: 10.22034/APJCP.2017.18.7.1743.
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Functionally Null Missense Mutation Associates Strongly with Ovarian Carcinoma.功能缺失性错义突变与卵巢癌强烈相关。
Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.
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A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.一项对超过35000名乳腺癌女性进行的研究，采用了一个包含25个遗传性癌症基因的基因检测面板进行检测。
Cancer. 2017 May 15;123(10):1721-1730. doi: 10.1002/cncr.30498. Epub 2017 Jan 13.
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Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.假定乳腺癌易感基因XRCC2中错义变异的功能分析。
Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.
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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.无证据表明BRIP1基因中的蛋白质截短变异与乳腺癌风险相关：对基因检测板检测的启示
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Inherited Mutations in Women With Ovarian Carcinoma.遗传性突变与卵巢癌女性。
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9
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.RAD51B、RAD51C和RAD51D基因种系突变对人群卵巢癌的影响。
J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.
10
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.范可尼贫血：用于人类遗传学和先进治疗学研究的模型疾病。
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种系有害变异在 RAD51 同源物中对乳腺癌和卵巢癌的贡献。

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.

机构信息

Department of Tumour Biology, Institut Curie, Paris, 75005, France.

Inserm U830, Institut Curie, Paris, 75005, France.

出版信息

Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8.

DOI:10.1038/s41431-017-0021-2
PMID:29255180
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5865182/
Abstract

RAD51 paralogs (RAD51B, RAD51C, RAD51D, XRCC2, and XRCC3) have recently been involved in breast and ovarian cancer predisposition: RAD51B, RAD51C, and RAD51D in ovarian cancer, RAD51B and XRCC2 in breast cancer. The aim of this study was to estimate the contribution of deleterious variants in the five RAD51 paralogs to breast and ovarian cancers. The five RAD51 paralog genes were analyzed by next-generation sequencing technologies in germline DNA from 2649 consecutive patients diagnosed with breast and/or ovarian cancer. Twenty-one different deleterious variants were identified in the RAD51 paralogs in 30 patients: RAD51B (n = 4), RAD51C (n = 12), RAD51D (n = 7), XRCC2 (n = 2), and XRCC3 (n = 5). The overall deleterious variant rate was 1.13% (95% confidence interval (CI): 0.72-1.55%) (30/2649), including 15 variants in breast cancer only cases (15/2063; 0.73% (95% CI: 0.34-1.11%)) and 15 variants in cases with at least one ovarian cancer (15/570; 2.63% (95% CI: 1.24-4.02%)). This study is the first evaluation of the five RAD51 paralogs in breast and ovarian cancer predisposition and it demonstrates that deleterious variants can be present in breast cancer only cases. Moreover, this is the first time that XRCC3 deleterious variants have been identified in breast and ovarian cancer cases.

摘要

RAD51 基因家族的同源物（RAD51B、RAD51C、RAD51D、XRCC2 和 XRCC3）最近被发现与乳腺癌和卵巢癌的易感性有关：RAD51B、RAD51C 和 RAD51D 与卵巢癌有关，RAD51B 和 XRCC2 与乳腺癌有关。本研究旨在评估五个 RAD51 基因家族同源物的有害变异在乳腺癌和卵巢癌中的作用。采用下一代测序技术对 2649 例连续确诊为乳腺癌和/或卵巢癌患者的生殖系 DNA 中的这 5 个 RAD51 基因家族同源物进行分析。在 30 例患者中发现 RAD51 基因家族同源物存在 21 种不同的有害变异：RAD51B（n=4）、RAD51C（n=12）、RAD51D（n=7）、XRCC2（n=2）和 XRCC3（n=5）。总的有害变异发生率为 1.13%（95%置信区间：0.72-1.55%）（30/2649），其中仅在乳腺癌病例中发现 15 种变异（15/2063；0.73%（95%置信区间：0.34-1.11%）），在至少有一例卵巢癌的病例中发现 15 种变异（15/570；2.63%（95%置信区间：1.24-4.02%））。这是首次对 RAD51 基因家族的这五个同源物在乳腺癌和卵巢癌易感性中的作用进行评估，研究表明有害变异也可能存在于仅患乳腺癌的病例中。此外，这也是首次在乳腺癌和卵巢癌病例中发现 XRCC3 的有害变异。