Familial Cancer

, Volume 11, Issue 4, pp 623–628 | Cite as

High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer

  • Pawel Gaj
  • Anna Kluska
  • Dorota Nowakowska
  • Aneta Bałabas
  • Magdalena Piątkowska
  • Michalina Dabrowska
  • Anna Niwińska
  • Jerzy OstrowskiEmail author
Original Article


Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of pathogenic germline BRCA1 and BRCA2 mutations in Polish women with familial and nonfamilial breast cancer. Genomic DNA was extracted from 1581 women with breast cancer and from 2225 healthy individuals. For genotyping BRCA1 (5382insC, T300G, 3819del5, 185delAG, C5370T, 3875del4, 3896delT, 4153delA, 4184del4, 4160delAG, G5332A) mutations and BRCA2 (G1408T, 5467insT, 6174delT, 6192delAT, 6675delTA, 8138del5, 9152delT, C9610T, 9630delC) mutations, a Custom TaqMan (Applied Biosystems) PCR-based technology was adopted. A BRCA1 mutation was found in 26 and 12.5 % of women with familial breast cancer and in 13 and 8.3 % nonfamilial (sporadic) breast cancer, diagnosed before or after 50 years of age, respectively. A much lower frequency of BRCA2 mutation was observed. The predominance of seven BRCA1 mutations (5382insC, T300G, 3819del5, 185delAG, C5370T, 3875del4, 4153delA) studied in the Masovian voivodeship population confirmed a strong founder effect for BRCA1 mutations in the Polish population, and the results of BRCA2 testing confirmed a high diversity in the studied pathogenic mutations in BRCA2 gene. We propose offering inexpensive testing for the presence of BRCA1 founder mutations to all Polish women at the time of initial breast cancer diagnosis, regardless of the patient’s family history or age of disease onset.


BRCA1 BRCA2 Mutations Nonfamilial Sporadic Breast Cancer Familial 



This work was supported by PBZ-MNiSW-05/I/2007/01 grant from Polish Ministry of Science and Higher Education.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical standards

The study was approved by the local ethics committee (Medical Center for Postgraduate Education and Cancer Center, Warsaw, Poland), and all the participants provided appropriate consent. The study protocol conformed to the ethical guidelines of the 1975 Declaration of Helsinki.


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Pawel Gaj
    • 1
  • Anna Kluska
    • 2
  • Dorota Nowakowska
    • 3
  • Aneta Bałabas
    • 2
  • Magdalena Piątkowska
    • 2
  • Michalina Dabrowska
    • 2
  • Anna Niwińska
    • 4
  • Jerzy Ostrowski
    • 1
    • 2
    Email author
  1. 1.Department of Gastroenterology and HepatologyMedical Center for Postgraduate EducationWarsawPoland
  2. 2.Department of Oncological GeneticsMaria Sklodowska-Curie Memorial Cancer Center and Institute of OncologyWarsawPoland
  3. 3.Genetic Counseling UnitMaria Sklodowska-Curie Memorial Cancer Center and Institute of OncologyWarsawPoland
  4. 4.Department of Breast Cancer and Reconstructive SurgeryMaria Sklodowska-Curie Memorial Cancer Center and Institute of OncologyWarsawPoland

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