Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphis...

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Published inAmerican journal of human genetics Vol. 82; no. 4; pp. 937 - 948
Main Authors Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Format Journal Article
LanguageEnglish
Published Chicago, IL Elsevier Inc 01.04.2008
University of Chicago Press
Cell Press
American Society of Human Genetics
Subjects
Adult
Aged
Biological and medical sciences
Breast cancer
Breast Neoplasms - genetics
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease - genetics
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
MAP Kinase Kinase Kinase 1 - genetics
Medical genetics
Medical sciences
Middle Aged
Molecular and cellular biology
Mutation
Polymorphism, Single Nucleotide
Receptor, Fibroblast Growth Factor, Type 2 - genetics
Risk
Tumors
Human
Breast disease
Pathogenesis
Risk
Breast cancer
Malignant tumor
Genetic determinism
Genetic disease
Mammary gland diseases
Allele
Association
Genetic counseling
Risk factor
Predisposition
Genetics
Mutation
Carrier
Cancer
Tumor suppressor gene
Online AccessGet full text

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Abstract Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20–1.45, ptrend = 1.7 × 10−8 and HR = 1.12, 95% CI: 1.02–1.24, ptrend = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06–1.20, ptrend = 5 × 10−5 in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
AbstractList Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20-1.45, p(trend) = 1.7 x 10(-8) and HR = 1.12, 95% CI: 1.02-1.24, p(trend) = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06-1.20, p(trend) = 5 x 10(-5) in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20–1.45, p trend = 1.7 × 10 −8 and HR = 1.12, 95% CI: 1.02–1.24, p trend = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06–1.20, p trend = 5 × 10 −5 in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20-1.45, ptrend = 1.7 super(x) 10 super(-8) and HR = 1.12, 95% CI: 1.02-1.24, ptrend = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06-1.20, ptrend = 5 super(x) 10 super(-5) in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20-1.45, P... = 1.7 x 10... and HR = 1.12, 95% CI: 1.02-1.24, P... = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06-1.20, P... = 5 x 10... in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers. (ProQuest: ... denotes formulae/symbols omitted.)
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20–1.45, ptrend = 1.7 × 10−8 and HR = 1.12, 95% CI: 1.02–1.24, ptrend = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06–1.20, ptrend = 5 × 10−5 in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
Author van den Ouweland, Ans M.W.
Beesley, Jonathan
Pooley, Karen A.
Eeles, Rosalind
Caligo, Maria A.
Milne, Roger L.
Neuhausen, Susan L.
Lynch, Henry T.
Manoukian, Siranoush
Cook, Margaret
Chenevix-Trench, Georgia
Radice, Paolo
Szabo, Csilla I.
Gerdes, Anne-Marie
Platte, Radka
Chompret, Agnès
Arnold, Norbert
Blum, Joanne L.
Easton, Douglas F.
Pereira, Lutecia H. Mateus
Niederacher, Dieter
Ozcelik, Hilmi
Hofmann, Wera
Engel, Christoph
Friedman, Eitan
Daly, Mary B.
Peock, Susan
Greene, Mark H.
Milgrom, Roni
Couch, Fergus J.
Gauthier-Villars, Marion
Meindl, Alfons
Olopade, Olufunmilayo I.
Pichert, Gabriella
Benítez, Javier
Laitman, Yael
Kaufman, Bella
Antoniou, Antonis C.
Barile, Monica
Barnett-Griness, Ofra
Deissler, Helmut
Caldes, Trinidad
Hogervorst, Frans B.L.
Douglas, Fiona
Domchek, Susan M.
Sutter, Christian
Osorio, Ana
Chen, Xiaoqing
Llort, Gemma
Andrulis, Irene L.
Ligtenberg, Marjolijn J.L.
Capoulade, Corinne
Manders, Peggy
Eccles, Diana
Sobol, Hagay
Nevanlinna, Heli
Peterlongo, Paolo
Schmutzler, Rita K.
Davidson, Rosemarie
Godwin, Andrew K.
Lej
AuthorAffiliation 23 City of Hope National Medical Center, Duarte, CA, USA
5 Cancer Research UK, Human Cancer Genetics Group, Department of Oncology, University of Cambridge, UK
61 INSERM UMR599, Institut Paoli-Calmettes, Département d'Oncologie Génétique, Marseille 13275, France
43 Oncology Institute, Sheba Medical Center, Tel-Hashomer, Israel
63 CNRS FRE2939, Department of Genetics, Institut Gustave Roussy, Villejuif, France
27 University of Chicago, Chicago, IL, USA
35 Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA
54 Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK
38 Department of Laboratory Medicine and Pathobiology, University of Toronto, Canada
3 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France
9 Department of Obstetrics and Gynaecology, University of Schleswig-Holstein, Campus Kiel, Germany
31 Medical Genetics Service, Fondazione IRCCS Istituto Nazionale dei
AuthorAffiliation_xml – name: 16 Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Quebec and Laval University
– name: 61 INSERM UMR599, Institut Paoli-Calmettes, Département d'Oncologie Génétique, Marseille 13275, France
– name: 18 Department of Epidemiology, University of California, Irvine, CA, USA
– name: 33 Department of Laboratory Medicine and Experimental Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
– name: 50 Family Cancer Clinic, Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
– name: 49 Deutsches Krebsforschungszentrum, Heidelberg, Germany
– name: 34 Laboratory of Population Genetics, US National Cancer Institute, National Institutes of Health, Rockville, MD, USA
– name: 17 Peter MacCallum Cancer Institute, Melbourne, Australia
– name: 23 City of Hope National Medical Center, Duarte, CA, USA
– name: 3 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France
– name: 44 See Acknowledgments
– name: 54 Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK
– name: 19 Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA
– name: 13 Department of Obstetrics and Gynaecology, University of Ulm, Germany
– name: 15 Department of Obstetrics and Gynaecology, Helsinki University Central Hospital, Helsinki, Finland
– name: 42 The Susanne Levy Gertner Oncogenetics Unit, Sheba Medical center, Tel-Hashomer, Israel
– name: 41 Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy
– name: 2 Queensland Institute of Medical Research, Brisbane, Australia
– name: 26 University of Texas, Southwestern, Dallas, TX, USA
– name: 31 Medical Genetics Service, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
– name: 46 Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
– name: 8 Department of Obstetrics and Gynaecology, Technical University, Munich, Germany
– name: 7 Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany
– name: 6 Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, University of Cologne, Germany
– name: 48 Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
– name: 9 Department of Obstetrics and Gynaecology, University of Schleswig-Holstein, Campus Kiel, Germany
– name: 12 Molecular Genetics Laboratory, Department of Obstetrics and Gynaecology, University of Düsseldorf, Germany
– name: 55 Translational Cancer Genetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, United Kingdom
– name: 40 Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, Denmark
– name: 1 Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
– name: 53 Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
– name: 36 CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Technion, Haifa, Israel
– name: 5 Cancer Research UK, Human Cancer Genetics Group, Department of Oncology, University of Cambridge, UK
– name: 14 Hospital Clinico San Carlos, Madrid, Spain
– name: 39 Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Canada
– name: 60 Institute of Human Genetics, Centre for Life, Newcastle upon Tyne, UK
– name: 28 Baylor-Sammons Cancer Center, Dallas, Texas, USA
– name: 58 Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
– name: 25 Fox Chase Cancer Center, Philadelphia, PA, USA
– name: 45 Department of Medicine, Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
– name: 64 Institut Curie, Genetics Department, Université Paris-Descartes, France
– name: 57 Yorkshire Regional Genetics Service, Leeds, UK
– name: 10 Institute of Human Genetics, Charite-University Medical Centre, Berlin, Germany
– name: 11 Institute of Human Genetics, University of Heidelberg, Germany
– name: 38 Department of Laboratory Medicine and Pathobiology, University of Toronto, Canada
– name: 27 University of Chicago, Chicago, IL, USA
– name: 52 Department of Human Genetics and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
– name: 20 University of Vienna, Vienna, Austria
– name: 35 Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA
– name: 59 Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK
– name: 63 CNRS FRE2939, Department of Genetics, Institut Gustave Roussy, Villejuif, France
– name: 22 Fisher Center for Familial Cancer Research, Lombardi Cancer Center, Georgetown University, Washington, DC, USA
– name: 21 Creighton University, Omaha, NE, USA
– name: 30 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori and IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
– name: 62 Oncological Genetics, Department of Medicine, Institut Gustave Roussy, Villejuif, France
– name: 24 UCLA Schools of Medicine & Public Health, and the UCLA Familial Cancer Registry of the Jonsson Comprehensive Cancer Center at UCLA, Los Angeles, CA, USA
– name: 56 Clinical Genetics, Guy's Hospital, London, UK
– name: 51 Department of Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
– name: 37 Ontario Cancer Genetics Network, Cancer Care Ontario, and Department of Molecular Genetics, University of Toronto, Ontario, Canada
– name: 29 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
– name: 32 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy
– name: 4 Laboratoire de Génétique Moléculaire, Signalisation et Cancer, UMR5201 CNRS, Université Lyon 1, Lyon, France
– name: 43 Oncology Institute, Sheba Medical Center, Tel-Hashomer, Israel
– name: 47 Genetic Counselling Unit, Prevention and Cancer Control Service, Institut Català d'Oncologia, Barcelona, Spain
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  givenname: Antonis C.
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  givenname: Rita K.
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  givenname: Beatrix
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  organization: Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco-Oncology, University of Cologne, Germany
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  givenname: Christoph
  surname: Engel
  fullname: Engel, Christoph
  organization: Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany
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  surname: Meindl
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  organization: Department of Obstetrics and Gynaecology, Technical University, Munich, Germany
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  organization: Department of Obstetrics and Gynaecology, University of Schleswig-Holstein, Campus Kiel, Germany
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  givenname: Wera
  surname: Hofmann
  fullname: Hofmann, Wera
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  surname: Deissler
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– sequence: 17
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  fullname: Nevanlinna, Heli
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  surname: Simard
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  organization: Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Quebec and Laval University
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  organization: Queensland Institute of Medical Research, Brisbane, Australia
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  organization: Queensland Institute of Medical Research, Brisbane, Australia
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  givenname: Timothy R.
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  surname: Wagner
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  givenname: Jeffrey
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  organization: Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori and IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
– sequence: 37
  givenname: Csilla I.
  surname: Szabo
  fullname: Szabo, Csilla I.
  organization: Department of Laboratory Medicine and Experimental Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
– sequence: 38
  givenname: Lutecia H. Mateus
  surname: Pereira
  fullname: Pereira, Lutecia H. Mateus
  organization: Laboratory of Population Genetics, US National Cancer Institute, National Institutes of Health, Rockville, MD, USA
– sequence: 39
  givenname: Mark H.
  surname: Greene
  fullname: Greene, Mark H.
  organization: Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA
– sequence: 40
  givenname: Gad
  surname: Rennert
  fullname: Rennert, Gad
  organization: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Technion, Haifa, Israel
– sequence: 41
  givenname: Flavio
  surname: Lejbkowicz
  fullname: Lejbkowicz, Flavio
  organization: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Technion, Haifa, Israel
– sequence: 42
  givenname: Ofra
  surname: Barnett-Griness
  fullname: Barnett-Griness, Ofra
  organization: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Technion, Haifa, Israel
– sequence: 43
  givenname: Irene L.
  surname: Andrulis
  fullname: Andrulis, Irene L.
  organization: Ontario Cancer Genetics Network, Cancer Care Ontario, and Department of Molecular Genetics, University of Toronto, Ontario, Canada
– sequence: 44
  givenname: Hilmi
  surname: Ozcelik
  fullname: Ozcelik, Hilmi
  organization: Department of Laboratory Medicine and Pathobiology, University of Toronto, Canada
– sequence: 45
  givenname: Anne-Marie
  surname: Gerdes
  fullname: Gerdes, Anne-Marie
  organization: Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, Denmark
– sequence: 46
  givenname: Maria A.
  surname: Caligo
  fullname: Caligo, Maria A.
  organization: Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy
– sequence: 47
  givenname: Yael
  surname: Laitman
  fullname: Laitman, Yael
  organization: The Susanne Levy Gertner Oncogenetics Unit, Sheba Medical center, Tel-Hashomer, Israel
– sequence: 48
  givenname: Bella
  surname: Kaufman
  fullname: Kaufman, Bella
  organization: Oncology Institute, Sheba Medical Center, Tel-Hashomer, Israel
– sequence: 49
  givenname: Roni
  surname: Milgrom
  fullname: Milgrom, Roni
  organization: The Susanne Levy Gertner Oncogenetics Unit, Sheba Medical center, Tel-Hashomer, Israel
– sequence: 50
  givenname: Eitan
  surname: Friedman
  fullname: Friedman, Eitan
  organization: The Susanne Levy Gertner Oncogenetics Unit, Sheba Medical center, Tel-Hashomer, Israel
– sequence: 51
  givenname: Susan M.
  surname: Domchek
  fullname: Domchek, Susan M.
  organization: Department of Medicine, Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
– sequence: 52
  givenname: Katherine L.
  surname: Nathanson
  fullname: Nathanson, Katherine L.
  organization: Department of Medicine, Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
– sequence: 53
  givenname: Ana
  surname: Osorio
  fullname: Osorio, Ana
  organization: Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
– sequence: 54
  givenname: Gemma
  surname: Llort
  fullname: Llort, Gemma
  organization: Genetic Counselling Unit, Prevention and Cancer Control Service, Institut Català d'Oncologia, Barcelona, Spain
– sequence: 55
  givenname: Roger L.
  surname: Milne
  fullname: Milne, Roger L.
  organization: Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
– sequence: 56
  givenname: Javier
  surname: Benítez
  fullname: Benítez, Javier
  organization: Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
– sequence: 57
  givenname: Ute
  surname: Hamann
  fullname: Hamann, Ute
  organization: Deutsches Krebsforschungszentrum, Heidelberg, Germany
– sequence: 58
  givenname: Frans B.L.
  surname: Hogervorst
  fullname: Hogervorst, Frans B.L.
  organization: Family Cancer Clinic, Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
– sequence: 59
  givenname: Peggy
  surname: Manders
  fullname: Manders, Peggy
  organization: Department of Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
– sequence: 60
  givenname: Marjolijn J.L.
  surname: Ligtenberg
  fullname: Ligtenberg, Marjolijn J.L.
  organization: Department of Human Genetics and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
– sequence: 61
  givenname: Ans M.W.
  surname: van den Ouweland
  fullname: van den Ouweland, Ans M.W.
  organization: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
– sequence: 62
  givenname: Susan
  surname: Peock
  fullname: Peock, Susan
  organization: Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
– sequence: 63
  givenname: Margaret
  surname: Cook
  fullname: Cook, Margaret
  organization: Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
– sequence: 64
  givenname: Radka
  surname: Platte
  fullname: Platte, Radka
  organization: Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
– sequence: 65
  givenname: D. Gareth
  surname: Evans
  fullname: Evans, D. Gareth
  organization: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK
– sequence: 66
  givenname: Rosalind
  surname: Eeles
  fullname: Eeles, Rosalind
  organization: Translational Cancer Genetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, United Kingdom
– sequence: 67
  givenname: Gabriella
  surname: Pichert
  fullname: Pichert, Gabriella
  organization: Clinical Genetics, Guy's Hospital, London, UK
– sequence: 68
  givenname: Carol
  surname: Chu
  fullname: Chu, Carol
  organization: Yorkshire Regional Genetics Service, Leeds, UK
– sequence: 69
  givenname: Diana
  surname: Eccles
  fullname: Eccles, Diana
  organization: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
– sequence: 70
  givenname: Rosemarie
  surname: Davidson
  fullname: Davidson, Rosemarie
  organization: Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK
– sequence: 71
  givenname: Fiona
  surname: Douglas
  fullname: Douglas, Fiona
  organization: Institute of Human Genetics, Centre for Life, Newcastle upon Tyne, UK
– sequence: 72
  givenname: Andrew K.
  surname: Godwin
  fullname: Godwin, Andrew K.
  organization: Fox Chase Cancer Center, Philadelphia, PA, USA
– sequence: 73
  givenname: Laure
  surname: Barjhoux
  fullname: Barjhoux, Laure
  organization: Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Lyon, France
– sequence: 74
  givenname: Sylvie
  surname: Mazoyer
  fullname: Mazoyer, Sylvie
  organization: Laboratoire de Génétique Moléculaire, Signalisation et Cancer, UMR5201 CNRS, Université Lyon 1, Lyon, France
– sequence: 75
  givenname: Hagay
  surname: Sobol
  fullname: Sobol, Hagay
  organization: INSERM UMR599, Institut Paoli-Calmettes, Département d'Oncologie Génétique, Marseille 13275, France
– sequence: 76
  givenname: Violaine
  surname: Bourdon
  fullname: Bourdon, Violaine
  organization: INSERM UMR599, Institut Paoli-Calmettes, Département d'Oncologie Génétique, Marseille 13275, France
– sequence: 77
  givenname: François
  surname: Eisinger
  fullname: Eisinger, François
  organization: INSERM UMR599, Institut Paoli-Calmettes, Département d'Oncologie Génétique, Marseille 13275, France
– sequence: 78
  givenname: Agnès
  surname: Chompret
  fullname: Chompret, Agnès
  organization: Oncological Genetics, Department of Medicine, Institut Gustave Roussy, Villejuif, France
– sequence: 79
  givenname: Corinne
  surname: Capoulade
  fullname: Capoulade, Corinne
  organization: CNRS FRE2939, Department of Genetics, Institut Gustave Roussy, Villejuif, France
– sequence: 80
  givenname: Brigitte
  surname: Bressac-de Paillerets
  fullname: Bressac-de Paillerets, Brigitte
  organization: CNRS FRE2939, Department of Genetics, Institut Gustave Roussy, Villejuif, France
– sequence: 81
  givenname: Gilbert M.
  surname: Lenoir
  fullname: Lenoir, Gilbert M.
  organization: CNRS FRE2939, Department of Genetics, Institut Gustave Roussy, Villejuif, France
– sequence: 82
  givenname: Marion
  surname: Gauthier-Villars
  fullname: Gauthier-Villars, Marion
  organization: Institut Curie, Genetics Department, Université Paris-Descartes, France
– sequence: 83
  givenname: Claude
  surname: Houdayer
  fullname: Houdayer, Claude
  organization: Institut Curie, Genetics Department, Université Paris-Descartes, France
– sequence: 84
  givenname: Dominique
  surname: Stoppa-Lyonnet
  fullname: Stoppa-Lyonnet, Dominique
  organization: Institut Curie, Genetics Department, Université Paris-Descartes, France
– sequence: 85
  givenname: Georgia
  surname: Chenevix-Trench
  fullname: Chenevix-Trench, Georgia
  organization: Queensland Institute of Medical Research, Brisbane, Australia
– sequence: 86
  givenname: Douglas F.
  surname: Easton
  fullname: Easton, Douglas F.
  organization: Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20277582$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/18355772$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright 2008 The American Society of Human Genetics
2008 INIST-CNRS
Copyright University of Chicago, acting through its Press Apr 11, 2008
2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics
Copyright_xml – notice: 2008 The American Society of Human Genetics
– notice: 2008 INIST-CNRS
– notice: Copyright University of Chicago, acting through its Press Apr 11, 2008
– notice: 2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics
CorporateAuthor EMBRACE
GEMO
study collaborators
the Kathleen Cuningham Consortium for Research into Familial Breast Cancer
The Swedish
and
The DNA-HEBON collaborators
on behalf of CIMBA
OCGN
DNA-HEBON collaborators
CIMBA
Swedish BRCA1 and BRCA2 study collaborators
Kathleen Cuningham Consortium for Research into Familial Breast Cancer
CorporateAuthor_xml – name: EMBRACE
– name: the Kathleen Cuningham Consortium for Research into Familial Breast Cancer
– name: and
– name: GEMO
– name: on behalf of CIMBA
– name: The Swedish
– name: study collaborators
– name: The DNA-HEBON collaborators
– name: OCGN
– name: Kathleen Cuningham Consortium for Research into Familial Breast Cancer
– name: DNA-HEBON collaborators
– name: CIMBA
– name: Swedish BRCA1 and BRCA2 study collaborators
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IsDoiOpenAccess true
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Issue 4
Keywords Human
Breast disease
Pathogenesis
Risk
Breast cancer
Malignant tumor
Genetic determinism
Genetic disease
Mammary gland diseases
Allele
Association
Genetic counseling
Risk factor
Predisposition
Genetics
Mutation
Carrier
Cancer
Tumor suppressor gene
Language English
License http://www.elsevier.com/open-access/userlicense/1.0
CC BY 4.0
This document may be redistributed and reused, subject to certain conditions.
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content type line 23
Deceased.
Present address: University of Miami, Sylvester Cancer Center, Miami, FL, USA.
OpenAccessLink https://www.sciencedirect.com/science/article/pii/S0002929708001675
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PublicationTitle American journal of human genetics
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American Society of Human Genetics
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  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Risch
– volume: 9
  start-page: 104
  year: 2007
  ident: 10.1016/j.ajhg.2008.02.008_bib7
  article-title: An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: The Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
  publication-title: Breast Cancer Res.
  doi: 10.1186/bcr1670
  contributor:
    fullname: Chenevix-Trench
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Snippet Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or...
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or...
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SubjectTerms Adult
Aged
Biological and medical sciences
Breast cancer
Breast Neoplasms - genetics
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease - genetics
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
MAP Kinase Kinase Kinase 1 - genetics
Medical genetics
Medical sciences
Middle Aged
Molecular and cellular biology
Mutation
Polymorphism, Single Nucleotide
Receptor, Fibroblast Growth Factor, Type 2 - genetics
Risk
Tumors
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Title Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
URI https://dx.doi.org/10.1016/j.ajhg.2008.02.008
https://www.ncbi.nlm.nih.gov/pubmed/18355772
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https://pubmed.ncbi.nlm.nih.gov/PMC2427217
Volume 82
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