title: Prevalence of the most frequent BRCA1 mutations in Polish population.
abstract: 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.
authors.affiliation: Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, Gdansk, Poland.
authors.forename: Izabela
authors.initials: I
authors.lastname: Brozek
authors.forename: Celina
authors.initials: C
authors.lastname: Cybulska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ratajska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Piatkowska
authors.forename: Anna
authors.initials: A
authors.lastname: Kluska
authors.forename: Aneta
authors.initials: A
authors.lastname: Balabas
authors.forename: Michalina
authors.initials: M
authors.lastname: Dabrowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Nowakowska
authors.forename: Anna
authors.initials: A
authors.lastname: Niwinska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Pamula-Pilat
authors.forename: Karolina
authors.initials: K
authors.lastname: Tecza
authors.forename: Wioletta
authors.initials: W
authors.lastname: Pekala
authors.forename: Jolanta
authors.initials: J
authors.lastname: Rembowska
authors.forename: Karina
authors.initials: K
authors.lastname: Nowicka
authors.forename: Maria
authors.initials: M
authors.lastname: Mosor
authors.forename: Danuta
authors.initials: D
authors.lastname: Januszkiewicz-Lewandowska
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Rachtan
authors.forename: Ewa
authors.initials: E
authors.lastname: Grzybowska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Nowak
authors.forename: Jan
authors.initials: J
authors.lastname: Steffen
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
mesh_terms: D000483:Alleles; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification; D005091:Exons; D005260:Female; D005787:Gene Frequency; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D004247:DNA