articleJournal of Clinical OncologyDec 2, 2014BRONZE OA

Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

National Centre of Scientific Research "Demokritos"

PubMed
Indexed incrossrefpubmed

Abstract

PURPOSE: Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. PATIENTS AND METHODS: Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations. RESULTS: Deleterious mutations were identified in 14.6% of all…

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678
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44.66
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100%
References
49
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Authors

41

Topics & keywords

Keywords
  • PALB2
  • Breast cancer
  • Germline mutation
  • Family history
  • Medicine
  • Genetic predisposition
  • Triple-negative breast cancer
  • CHEK2
UN Sustainable Development Goals
  • Good health and well-being
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