Prevalence of the most frequent BRCA1 mutations in Polish population

• Autorzy: Brozek I. , Cybulska C. , Ratajska M. , Piatkowska M. , Kluska A. , Balabas A. , Dabrowska M. , Nowakowska D. , Niwinska A. , Pamula-Pilat J. , Tecza K. , Pekala W. , Rembowska J. , Nowicka K. , Mosor M. , Januszkiewicz-Lewandowska D. , Rachtan J. , Grzybowska E. , Nowak J. , Steffen J. , Limon J.
• Języki publikacji: EN

Abstrakty

EN

The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2011
• Tom: 52
• Numer: 3
• Opis fizyczny: p.325-330,fig.,ref.

Twórcy

autor

Brozek I.

• Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80-211 Gdansk, Poland

autor

Cybulska C.

• Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80-211 Gdansk, Poland

autor

Ratajska M.

• Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80-211 Gdansk, Poland

autor

Piatkowska M.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Kluska A.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Balabas A.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Dabrowska M.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Nowakowska D.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Niwinska A.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Pamula-Pilat J.

• Department of Molecular Biology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

autor

Tecza K.

• Department of Molecular Biology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

autor

Pekala W.

• Department of Molecular Biology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

autor

Rembowska J.

• Department of Molecular Pathology, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Nowicka K.

• Department of Molecular Pathology, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Mosor M.

• Department of Molecular Pathology, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Januszkiewicz-Lewandowska D.

• Department of Molecular Pathology, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Rachtan J.

• Epidemiology Unit, Centre of Oncology, Maria Sklodowska-Curie Memorial Institute, Krakow, Poland

autor

Grzybowska E.

• Department of Molecular Biology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

autor

Nowak J.

• Department of Molecular Pathology, Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Steffen J.

• Department of Immunology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland

autor

Limon J.

• Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, 80-211 Gdansk, Poland

Uwagi

PL

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