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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

  • 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
Publishing year: 2015
Language: English
Pages: 193-198
Publication/Series: Journal of Applied Genetics
Volume: 56
Issue: 2
Document type: Journal article
Publisher: Springer

Abstract 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.


  • Cancer and Oncology
  • BRCA1
  • BRCA2
  • Mutations
  • Next generation sequencing
  • Ovarian cancer
  • PARP inhibitors


  • ISSN: 1234-1983
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2