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Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer

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Abstract

Germline mutations in the BRCA1 tumor suppressor gene predispose affected individuals to breast cancer; however, incomplete cancer penetrance and the presence of phenocopies in BRCA1 families also indicate genetic and environmental modifiers of breast cancer risk. In this study, we have tested the single nucleotide polymorphism rs1655505 of the BRCA1 promoter, as candidate for the modifier of breast cancer risk. The polymorphic variants were genotyped in BRCA1-negative (729), familial breast and/or ovarian cancer cases (FBOC), including cases with a reported maternal history (154), nonfamilal (sporadic) cases (600), hereditary breast/ovarian cases with BRCA1 mutations (190) and population controls (1,590) from Central Poland. An association with the risk of FBOC was observed for the minor (T) allele and (TT) genotype (T: p = 0.006, OR = 1.40, 95 % CI = 1.10–1.79; TT: p = 0.001, OR = 2.23, 95 % CI = 1.37–3.62) in female cases with a reported maternal history, specifically in women with the onset of disease after 50 years of age (T: p = 0.004, OR = 1.77, 95 % CI = 1.20–2.62; TT: p = 0.001, OR = 3.7, 95 % CI = 1.62–8.46). The presented evidence suggests a need to conduct larger studies on the association between genetic variations at the BRCA1 promoter and the breast cancer risk, according to maternal/paternal lineage.

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Acknowledgments

We thank all the patients for their participation in this study. The study was supported by Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Molecular and Translational Oncology, Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland

    Beata Bielinska, Renata Zub & Janusz A. Siedlecki

  2. Department of Genetic Oncology, Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland

    Anna Kluska, Aneta Balabas, Michalina Dabrowska & Jerzy Ostrowski

  3. Genetic Counseling Unit, Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland

    Dorota Nowakowska, Elzbieta Skasko & Jan Steffen

  4. Laboratory of DNA Sequencing and Oligonucleotide Synthesis, Institute of Biochemistry and Biophysics, Warsaw, Poland

    Jakub Gruchota

  5. Department of Gastroenterology and Hepatology, Medical Center for Postgraduate Education, Warsaw, Poland

    Pawel Gaj & Jerzy Ostrowski

  6. Center of Biostructure Research, Department of Immunology, Medical University of Warsaw, Warsaw, Poland

    Pawel Gaj

  7. Department of Breast Cancer and Reconstructive Surgery, Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland

    Anna Niwinska

Authors
  1. Beata Bielinska
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  2. Pawel Gaj
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  3. Anna Kluska
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  4. Dorota Nowakowska
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  6. Michalina Dabrowska
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  7. Anna Niwinska
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  8. Jakub Gruchota
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  9. Renata Zub
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  10. Elzbieta Skasko
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  11. Jan Steffen
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  12. Jerzy Ostrowski
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  13. Janusz A. Siedlecki
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Corresponding author

Correspondence to Beata Bielinska.

Additional information

Beata Bielinska, Pawel Gaj and Anna Kluska contributed equally to this work.

Jan Steffen—deceased

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Bielinska, B., Gaj, P., Kluska, A. et al. Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer. Familial Cancer 12, 691–698 (2013). https://doi.org/10.1007/s10689-013-9647-6

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  • DOI: https://doi.org/10.1007/s10689-013-9647-6

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