title: Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
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.
authors: Department of Molecular and Translational Oncology, Maria-Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland, bbielinska@coi.waw.pl.
authors: Beata
authors: B
authors: Bielinska
authors: Pawel
authors: P
authors: Gaj
authors: Anna
authors: A
authors: Kluska
authors: Dorota
authors: D
authors: Nowakowska
authors: Aneta
authors: A
authors: Balabas
authors: Michalina
authors: M
authors: Dabrowska
authors: Anna
authors: A
authors: Niwinska
authors: Jakub
authors: J
authors: Gruchota
authors: Renata
authors: R
authors: Zub
authors: Elzbieta
authors: E
authors: Skasko
authors: Jan
authors: J
authors: Steffen
authors: Jerzy
authors: J
authors: Ostrowski
authors: Janusz A
authors: JA
authors: Siedlecki
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011044:Poland; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
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