- 作者：Kathrin Scheckenbach ; Stephan E. Baldus ; Vera Balz ; Marcel Freund ; Petra Pakropa ; Christoph Sproll ; Karl-Ludwig Sch盲fer ; Martin Wagenmann ; J枚rg Schipper ; Helmut Hanenberg
- 关键词：RAD51C ; Head and neck cancer ; Cancer susceptibility gene ; Germline mutations ; DNA repair
- 刊名：Oral Oncology
- 出版年：March, 2014
- 年：2014
- 卷：50
- 期：3
- 页码：196-199
- 全文大小：291 K
Summary
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.