RAD51C——一个新的人类癌症易感性基因，与头颈部（HNSCC）散发性鳞状细胞癌有关。
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
机构信息
Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
Department of Pathology, Heinrich Heine University, 40225 Düsseldorf, Germany.
出版信息
Oral Oncol. 2014 Mar;50(3):196-9. doi: 10.1016/j.oraloncology.2013.11.007. Epub 2013 Dec 6.
INTRODUCTION
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.
METHODS
In this study, we analyzed 121 individuals with HNSCCs collected at our institution for germline alterations in the newly identified cancer susceptibility gene RAD51C.
RESULTS
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).
CONCLUSIONS
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 described as mutated in breast and ovarian cancer patients, might also be candidates for genetic risk factors in sporadic squamous cell carcinomas of the head and neck.
简介
头颈部鳞状细胞癌（HNSSC）是全球癌症相关死亡的主要原因之一。尽管某些行为风险因素已被公认可促进肿瘤发生，但对于 HNSCC 患者中存在易感性种系突变的了解甚少。
方法
在这项研究中，我们分析了在我们机构收集的 121 名 HNSCC 患者，以研究新发现的癌症易感性基因 RAD51C 中的种系改变。
结果
对所有外显子及其相邻内含子进行测序，在 7 名患者（5.8%）中发现 RAD51C 中有五个不同的杂合序列偏差。一位没有其他风险因素的女性患者携带了一个种系突变，破坏了外显子 5 的经典剪接受体位点（c.706-2A>G）。
结论
由于文献中只有少数关于头颈部癌症患者种系突变的出版物，我们的结果首次表明，RAD51 的旁系同源物最近在乳腺癌和卵巢癌患者中被描述为突变，也可能是散发性头颈部鳞状细胞癌的遗传风险因素候选者。
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