title: RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
abstract: BACKGROUND
  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.
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address: scheckenbach@med.uni-duesseldorf.de.
authors: Kathrin
authors: K
authors: Scheckenbach
authors: Department of Pathology, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Stephan E
authors: SE
authors: Baldus
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Vera
authors: V
authors: Balz
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Marcel
authors: M
authors: Freund
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Petra
authors: P
authors: Pakropa
authors: Department of Cranio-and-Maxillo Facial Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Christoph
authors: C
authors: Sproll
authors: Department of Pathology, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Karl-Ludwig
authors: KL
authors: Schäfer
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Martin
authors: M
authors: Wagenmann
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany.
authors: Jörg
authors: J
authors: Schipper
authors: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany; Pediatric Hematology/Oncology, Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Helmut
authors: H
authors: Hanenberg
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; C448305:RAD51C protein, human
keywords: Cancer susceptibility gene; DNA repair; Germline mutations; Head and neck cancer; RAD51C