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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

Author

  • Magdalena Ratajska
  • Magdalena Krygier
  • Maciej Stukan
  • Alina Kuzniacka
  • Magdalena Koczkowska
  • Miroslaw Dudziak
  • Marcin Sniadecki
  • Jaroslaw Debniak
  • Dariusz Wydra
  • Izabela Brozek
  • Wojciech Biernat
  • Åke Borg
  • Janusz Limon
  • Bartosz Wasag
Show all

Summary, in English

The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41 %) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65 %) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered.

Department/s

  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2015

Language

English

Pages

193-198

Publication/Series

Journal of Applied Genetics

Volume

56

Issue

2

Document type

Journal article

Publisher

Springer

Topic

  • Cancer and Oncology

Keywords

  • BRCA1
  • BRCA2
  • Mutations
  • Next generation sequencing
  • Ovarian cancer
  • PARP inhibitors

Status

Published

ISBN/ISSN/Other

  • ISSN: 1234-1983