title: Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
abstract: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.
  
  
  
  Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.
  
  
  
  We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.
  
  
  
  We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
authors: Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
authors: Yosr
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authors: Hamdi
authors: Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
authors: Penny
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authors: Soucy
authors: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.|The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, Cambridge, CB10 1HH, UK.
authors: Karoline B
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authors: Kuchenbaeker
authors: Department of Human Genetics, McGill University, Montreal, QC, H3A 1B1, Canada.|McGill University and Genome Quebec Innovation Centre, Montreal, QC, H3A 0G1, Canada.
authors: Tomi
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authors: Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
authors: Arnaud
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authors: Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
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authors: Kristiina
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authors: Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.|Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
authors: Irene L
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authors: Department of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101, Reykjavík, Iceland.|BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101, Reykjavík, Iceland.
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authors: Norbert
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authors: Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
authors: Jacopo
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authors: Anita
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authors: Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.|Biomedical Network on Rare Diseases (CIBERER), 28029, Madrid, Spain.|Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
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authors: Marinus J
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authors: Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
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authors: Uffe Birk
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authors: Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA, 94538, USA.|Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
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authors: Institute of Human Genetics, University of Ulm, 89091, Ulm, Germany.
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authors: Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
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authors: Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
authors: Siranoush
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authors: Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
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authors: Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.
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authors: HE
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authors: Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105, Kiel, Germany.
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authors: Anna Marie
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authors: Katherine L
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authors: Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
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authors: Robert L
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authors: Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
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authors: Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL, USA.
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authors: West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK.
authors: Kai-Ren
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authors: Jan C
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authors: Oosterwijk
authors: Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.|Biomedical Network on Rare Diseases (CIBERER), 28029, Madrid, Spain.
authors: Ana
authors: A
authors: Osorio
authors: Unit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134, Florence, Italy.
authors: Laura
authors: L
authors: Papi
authors: Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799, Korea.
authors: Sue Kyung
authors: SK
authors: Park
authors: Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark.
authors: Inge Sokilde
authors: IS
authors: Pedersen
authors: Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
authors: Bernard
authors: B
authors: Peissel
authors: Department of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
authors: Pedro Perez
authors: PP
authors: Segura
authors: IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139, Milan, Italy.
authors: Paolo
authors: P
authors: Peterlongo
authors: Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, 33612, USA.
authors: Catherine M
authors: CM
authors: Phelan
authors: Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133, Milan, Italy.
authors: Paolo
authors: P
authors: Radice
authors: Department of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76, Stockholm, Sweden.
authors: Johanna
authors: J
authors: Rantala
authors: Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
authors: Christine
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authors: Rappaport-Fuerhauser
authors: Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362, Haifa, Israel.
authors: Gad
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authors: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
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authors: Clinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.
authors: Mark
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authors: Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE, Amsterdam, The Netherlands.
authors: Matti A
authors: MA
authors: Rookus
authors: Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.|Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, 50931, Cologne, Germany.|Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
authors: Rita Katharina
authors: RK
authors: Schmutzler
authors: Oncogénétique, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux, France.
authors: Nicolas
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authors: Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
authors: Payal D
authors: PD
authors: Shah
authors: Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
authors: Christian F
authors: CF
authors: Singer
authors: Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA.
authors: Thomas P
authors: TP
authors: Slavin
authors: Medical Genetics Unit, St George's, University of London, London, SW17 0RE, UK.
authors: Katie
authors: K
authors: Snape
authors: Laboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511, Vandoeuvre-les-Nancy, France.
authors: Johanna
authors: J
authors: Sokolowska
authors: Department of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark.
authors: Ida Marie Heeholm
authors: IM
authors: Sønderstrup
authors: Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC, 3010, Australia.
authors: Melissa
authors: M
authors: Southey
authors: Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
authors: Amanda B
authors: AB
authors: Spurdle
authors: Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, USA.
authors: Zsofia
authors: Z
authors: Stadler
authors: Service de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
authors: Dominique
authors: D
authors: Stoppa-Lyonnet
authors: Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
authors: Grzegorz
authors: G
authors: Sukiennicki
authors: Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
authors: Christian
authors: C
authors: Sutter
authors: Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
authors: Yen
authors: Y
authors: Tan
authors: Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
authors: Muy-Kheng
authors: MK
authors: Tea
authors: Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.|Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
authors: Manuel R
authors: MR
authors: Teixeira
authors: Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
authors: Alex
authors: A
authors: Teulé
authors: Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500, Subang Jaya, Malaysia.|University Malaya Cancer Research Institute, University Malaya, 1 Jalan SS12/1A, 50603, Kuala Lumpur, Malaysia.
authors: Soo-Hwang
authors: SH
authors: Teo
authors: Department of Epidemiology, Columbia University, New York, NY, USA.
authors: Mary Beth
authors: MB
authors: Terry
authors: Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark.
authors: Mads
authors: M
authors: Thomassen
authors: Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia.
authors: Laima
authors: L
authors: Tihomirova
authors: Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.|Department of Medical Genetics Level 6 Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Hills Road, Box 134, Cambridge, CB2 0QQ, UK.
authors: Marc
authors: M
authors: Tischkowitz
authors: Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128, Padua, Italy.
authors: Silvia
authors: S
authors: Tognazzo
authors: Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, 43210, USA.
authors: Amanda Ewart
authors: AE
authors: Toland
authors: Department of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA, 02215, USA.
authors: Nadine
authors: N
authors: Tung
authors: Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands.
authors: Ans M W
authors: AM
authors: van den Ouweland
authors: Department of Medical Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
authors: Rob B
authors: RB
authors: van der Luijt
authors: Department of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.
authors: Klaartje
authors: K
authors: van Engelen
authors: Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
authors: Elizabeth J
authors: EJ
authors: van Rensburg
authors: Institute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353, Berlin, Germany.
authors: Raymonda
authors: R
authors: Varon-Mateeva
authors: Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
authors: Barbara
authors: B
authors: Wappenschmidt
authors: Department of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.
authors: Juul T
authors: JT
authors: Wijnen
authors: Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.|Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors: Timothy
authors: T
authors: Rebbeck
authors: Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
authors: Georgia
authors: G
authors: Chenevix-Trench
authors: Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
authors: Kenneth
authors: K
authors: Offit
authors: Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.|Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
authors: Fergus J
authors: FJ
authors: Couch
authors: Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372, Oslo, Norway.
authors: Silje
authors: S
authors: Nord
authors: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
authors: Douglas F
authors: DF
authors: Easton
authors: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
authors: Antonis C
authors: AC
authors: Antoniou
authors: Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada. Jacques.Simard@crchudequebec.ulaval.ca.
authors: Jacques
authors: J
authors: Simard
mesh_terms: D000483:Alleles; D014408:Biomarkers, Tumor; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000209:etiology*; D002880:Chromosomes, Human, Pair 11; D005260:Female; D015870:Gene Expression; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D040641:Quantitative Trait Loci; D012306:Risk
chemical_list: D014408:Biomarkers, Tumor
keywords: BRCA1 and BRCA2 mutation carriers; Breast cancer; Cis-regulatory variants; Differential allelic expression; Genetic modifiers; Genetic susceptibility