title: BRCA1 mutations and prostate cancer in Poland.
abstract: Evidence to date that BRCA1 mutation carriers are at an increased risk of prostate cancer is mixed - both positive and negative studies have been published. To establish whether or not inherited variation in BRCA1 influences prostate cancer risk we genotyped 1793 men with prostate cancer in Poland and 4570 controls for three founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.45% of the cases and 0.48% of the controls (odds ratio=0.9; P=1.0). The odds ratios varied substantially by mutation. The 5382insC mutation is the most common of the three founder mutations. It was detected only in one case (0.06%), whereas it was seen in 0.37% of controls (P=0.06). In contrast, the 4153delA was more common in prostate cancer cases (0.22%) than in controls (0.04%) (odds ratio=5.1; 95% confidence interval: 0.9-27.9; P=0.1). The C61G mutation was also found in excess in cases (0.17%) compared with controls (0.07%) (odds ratio=2.6; 95% confidence interval: 0.5-12.7; P=0.5). Eight men with prostate cancer carried a mutation. Only one of these carried the 5382insC mutation, compared with 17 of 22 individuals with mutations in the control population (P=0.003). These data suggest that the 5382insC mutation is unlikely to be pathogenic for prostate cancer in the Polish population. The presence of one of the other alleles was associated with an increased risk for prostate cancer (odds ratio=3.6; 95% confidence interval: 1.1-11.3; P=0.045); in particular for familial prostate cancer (odds ratio=12; 95% confidence interval: 2.9-51; P=0.0004). We consider that the risk of prostate cancer in BRCA1 carriers varies with the position of the mutation.
authors: Department of Genetics and Pathology, International Hereditary Cancer Center, Poland. cezarycy@sci.pam.szczecin.pl
authors: Cezary
authors: C
authors: Cybulski
authors: Bohdan
authors: B
authors: Górski
authors: Jacek
authors: J
authors: Gronwald
authors: Tomasz
authors: T
authors: Huzarski
authors: Tomasz
authors: T
authors: Byrski
authors: Tadeusz
authors: T
authors: Debniak
authors: Anna
authors: A
authors: Jakubowska
authors: Dominika
authors: D
authors: Wokołorczyk
authors: Bartłomiej
authors: B
authors: Gliniewicz
authors: Andrzej
authors: A
authors: Sikorski
authors: Małgorzata
authors: M
authors: Stawicka
authors: Dariusz
authors: D
authors: Godlewski
authors: Zbigniew
authors: Z
authors: Kwias
authors: Andrzej
authors: A
authors: Antczak
authors: Kazimierz
authors: K
authors: Krajka
authors: Wojciech
authors: W
authors: Lauer
authors: Marek
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authors: Sosnowski
authors: Paulina
authors: P
authors: Sikorska-Radek
authors: Krzysztof
authors: K
authors: Bar
authors: Robert
authors: R
authors: Klijer
authors: Zdrojowy
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authors: Romuald
authors: Bartosz
authors: B
authors: Małkiewicz
authors: Andrzej
authors: A
authors: Borkowski
authors: Tomasz
authors: T
authors: Borkowski
authors: Marek
authors: M
authors: Szwiec
authors: Michal
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authors: Posmyk
authors: Steven A
authors: SA
authors: Narod
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authors: Lubiński
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010375:Pedigree; D011044:Poland / Q000453:epidemiology; D011471:Prostatic Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein