title: Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
abstract: Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
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authors.affiliation: Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland.
authors.forename: Grzegorz
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authors.lastname: Sukiennicki
authors.affiliation: Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Christian
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authors.lastname: Sutter
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5312, 50 South Drive, MSC 004, Bethesda, MD 20892-8004, United States of America.
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authors.initials: CI
authors.lastname: Szabo
authors.affiliation: Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18-20, A 1090 Vienna, Austria.
authors.forename: Muy-Kheng
authors.initials: MK
authors.lastname: Tea
authors.affiliation: Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.
authors.forename: Manuel R
authors.initials: MR
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authors.affiliation: Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, Subang Jaya, 47500 Malaysia.
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authors.initials: SH
authors.lastname: Teo
authors.affiliation: Department of Epidemiology, Columbia University, New York, NY, United States of America.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Terry
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark.
authors.forename: Mads
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authors.affiliation: UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Via O.Rossi 9, 21100 Varese, Italy.
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authors.affiliation: Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia.
authors.forename: Laima
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authors.affiliation: Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, Padua, Italy.
authors.forename: Silvia
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authors.affiliation: Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia 0007, South Africa.
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authors.affiliation: Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, largo Rosanna Benzi 10, 16132 Genoa, Italy.
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authors.affiliation: Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany.
authors.forename: Raymonda
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authors.affiliation: Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos" Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece.
authors.forename: Athanassios
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mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide