RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
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DOI：
10.1016/j.oraloncology.2013.11.007
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发表时间：
2014-03
期刊：
影响因子：
4.8
通讯作者：
Hanenberg, Helmut
中科院分区：
文献类型：
--
作者：
Scheckenbach, Kathrin;Baldus, Stephan E.;Balz, Vera;Freund, Marcel;Pakropa, Petra;Sproll, Christoph;Schaefer, Karl-Ludwig;Wagenmann, Martin;Schipper, Joerg;Hanenberg, Helmut
头颈部鳞状细胞癌(HNSSCs)是世界范围内癌症相关死亡的主要原因之一。虽然某些行为危险因素被认为是肿瘤的促进剂，但对HNSCC患者中是否存在易感胚系突变知之甚少。在这项研究中，我们分析了在我们研究所收集的121例HNSCC患者的新发现的癌症易感基因RAD51C的胚系改变。对所有外显子和相邻内含子的测序显示，7例患者(5.8%)RAD51C有5个明显的杂合性序列偏离。1例无其他危险因素的女性患者携带一种胚系突变，该突变破坏了第5外显子(C.706-2A和GT；G)的典型剪接受体位点。由于文献中只有几篇文章确认了头颈癌患者的胚系突变，我们的结果提供了第一个迹象，即最近在乳腺癌和卵巢癌中实施的RAD51平行基因也可能是散发性头颈部鳞状细胞癌的遗传危险因素。
Head and neck squamous cell carcinomas (HNSSCs) are one of the leading causes of cancer-associated death worldwide. Although certain behavioral risk factors are well recognized as tumor promoting, there is very little known about the presence of predisposing germline mutations in HNSCC patients. In this study, we analyzed 121 individuals with HNSCCs collected at our institution for germline alterations in the newly identified cancer susceptibility gene RAD51C. Sequencing of all exons and the adjacent introns revealed five distinct heterozygous sequence deviations in RAD51C in seven patients (5.8%). A female patient without any other risk factors carried a germline mutation that disrupted the canonical splice acceptor site of exon 5 (c.706-2A>G). As there are only a few publications in the literature identifying germline mutations in head and neck cancer patients, our results provide the first indication that paralogs of RAD51, recently implemented in breast and ovarian cancers, might also be candidates for genetic risk factors in sporadic squamous cell carcinomas of the head and neck.
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DOI：
10.1186/1758-3284-1-36
发表时间：
2009-10-14
期刊：
Head & neck oncology
影响因子：
--
作者：
Goon PK;Stanley MA;Ebmeyer J;Steinsträsser L;Upile T;Jerjes W;Bernal-Sprekelsen M;Görner M;Sudhoff HH
通讯作者：
Sudhoff HH
影响因子：
9.8
作者：
Bogliolo, Massimo;Schuster, Beatrice;Surralles, Jordi
通讯作者：
Surralles, Jordi
影响因子：
2.8
作者：
Mahjabeen, Ishrat;Baig, Ruqia Mehmood;Kayani, Mahmood Akhtar
通讯作者：
Kayani, Mahmood Akhtar
DOI：
10.1056/nejmra0809889
发表时间：
2010-05-20
期刊：
The New England journal of medicine
影响因子：
--
作者：
D'Andrea AD
通讯作者：
D'Andrea AD
影响因子：
20.3
作者：
Kutler, DI;Singh, B;Auerbach, AD
通讯作者：
Auerbach, AD