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Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Author information

  • 1Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, Rochester, Minnesota.
  • 2Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
  • 3Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
  • 4Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
  • 5Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota.
  • 6Department of Medicine, Division of Hematology and Oncology, David Geffen School of Medicine, University of California at Los Angeles and Jonsson Comprehensive Cancer Center, Los Angeles, California.
  • 7Department of Translational Genomics, University of Kansas Medical Center, Kansas City, Kansas.
  • 8Illumina Corporation, San Diego, California.
  • 9Department of Medical Oncology, Mayo Clinic, Rochester, Minnesota.
  • 10Department of Health Science Research, Medical Genetics, Mayo Clinic, Scottsdale, Arizona.
  • 11Department of Biostatistics, University of Kansas Medical Center, Kansas City, Kansas.
  • 121] Department of Oncology, University of Cambridge, Cambridge, United Kingdom [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

Abstract

We evaluated homologous recombination deficient (HRD) phenotypes in epithelial ovarian cancer (EOC) considering BRCA1, BRCA2, and RAD51C in a large well-annotated patient set. We evaluated EOC patients for germline deleterious mutations (n = 899), somatic mutations (n = 279) and epigenetic alterations (n = 482) in these genes using NGS and genome-wide methylation arrays. Deleterious germline mutations were identified in 32 (3.6%) patients for BRCA1, in 28 (3.1%) for BRCA2 and in 26 (2.9%) for RAD51C. Ten somatically sequenced patients had deleterious alterations, six (2.1%) in BRCA1 and four (1.4%) in BRCA2. Fifty two patients (10.8%) had methylated BRCA1 or RAD51C. HRD patients with germline or somatic alterations in any gene were more likely to be high grade serous, have an earlier diagnosis age and have ovarian and/or breast cancer family history. The HRD phenotype was most common in high grade serous EOC. Identification of EOC patients with an HRD phenotype may help tailor specific therapies.

PMID:
24504028
[PubMed - in process]
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