Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
| Autor: | Im, Kate M., Kirchhoff, Tomas, Wang, Xianshu, Green, Todd, Chow, Clement Y., Vijai, Joseph, Korn, Joshua, Gaudet, Mia M., Fredericksen, Zachary, Pankratz, V. Shane, Guiducci, Candace, Crenshaw, Andrew, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Mai, Phuong L., Greene, Mark H., Piedmonte, Marion, Rubinstein, Wendy S., Hogervorst, Frans B. L., Rookus, Matti A., Collee, Margriet J., Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne E. J., van Roozendaal, Cees E., Caldes, Trinidad, Perez Segura, Pedro, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Blecharz, Pawel, Nevanlinna, Heli, Aittomaki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Barkardottir, Rosa B., Montagna, Marco, D'Andrea, Emma, Devilee, Peter, Olopade, Olufunmilayo I., Neuhausen, Susan L., Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Singer, Christian F., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda Ewart, Caligo, Maria Adelaide, Beattie, Mary S., Chan, Salina B., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Phelan, Catherine M., Narod, Steven A., John, Esther M., Hopper, John L., Buys, Saundra, Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Paterson, Joan, Brewer, Carole, Hodgson, Shirley V., Morrison, Patrick J., Porteous, Mary E., Walker, Lisa, Rogers, Mark T., Side, Lucy E., Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Laitman, Yael, Meindl, Alfons, Deissler, Helmut, Varon-Mateeva, Raymonda, Preisler-Adams, Sabine, Kast, Karin, Venat-Bouvet, Laurence, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F., Klein, Robert J., Daly, Mark J., Friedman, Eitan, Dean, Michael, Clark, Andrew G., Altshuler, David M., Antoniou, Antonis C., Couch, Fergus J., Offit, Kenneth, Gomez Garcia, Encarna, Blok, Marinus, Gold, Bert |
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| Přispěvatelé: | center for cancer research, Cancer inflammation, Department of Environmental Medicine, New York University School of Medicine-NYU Cancer Institute, Department of Laboratory Medicine and Pathology, Mayo Clinic, Department of Genetics [Boston], Harvard Medical School [Boston] ( HMS ), Cornell University, Department of Medical Genetics, Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] ( CAM ), Queensland Institute of Medical Research, Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Léon Bérard [Lyon], Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Institutes of Health ( NIH ) -National Cancer Institute ( NIH ), Statistical and Data Center, Roswell Park Cancer Institute [Buffalo], Department of Clinical Genetics, Erasmus University Medical Center-Family Cancer Clinic, Human Genetics, Molecular Oncology Laboratory, Hospital Clínico San Carlos, Department of Genetics and Pathology, Pomeranian Medical University-International Hereditary Cancer Centre, International Hereditary Cancer Center, Pomeranian Medical University, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Molecular Diagnostic Unit, IDIBELL-Catalan Institute of Oncology, Genetic Counselling Unit, Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Department of Oncology and Surgical Sciences, University of Padua and Istituto Oncologico Veneto IOV - IRCCS, Department of Genetic Epidemiology, Leiden University Medical Center (LUMC), Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale Tumouri (INT), Division of Cancer Prevention and Genetics, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumouri (INT)-Fondazione Istituto FIRC di Oncologia Molecolare, Department of Community Medicine and Epidemiology, CHS National Cancer Control Center, Ontario Cancer Genetics Network, Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Samuel Lunenfeld Research Institute, Mount Sinai Hospital ( MSH ), Section of Genetic Oncology, University Hospital and University of Pisa, Depts of Medicine and Biostatistics and Epidemology, Abramson Family Cancer Research Institute-University of Pennsylvania School of Medicine, Women's College Research Institute, University of Toronto, Human Genetics Group, Spanish National Cancer Research Centre, Biomedical Research Centre Network for Rare Diseases, CIBER de Enfermedades Raras (CIBERER), Institute of Biology and Molecular Genetics, Universidad de Valladolid [Valladolid] ( UVa ), Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum ( DKFZ ), Genetic Medicine, Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Addenbrookes Hospital, Royal Devon & Exeter Hospital, Medical Genetics Unit, University College of London [London] ( UCL ), South East of Scotland Regional Genetics Service, Western General Hospital, Oxford Regional Genetics Service, Churchill Hospital Oxford Centre for Haematology, Department of Gynaecology and Obstetrics, University Hospital of Cologne [Cologne]-Centre of Familial Breast and Ovarian Cancer-Centre for Integrated Oncology (CIO), The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Technical University of Munich ( TUM ), University Hospital Ulm, Charite berlin, Westfälische Wilhelms-Universität Münster ( WWU ), University Hospital Carl Gustav Carus, Service d'Oncologie médicale [CHU Limoges], CHU Limoges, Service de Génétique Oncologique, INSTITUT CURIE, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Cancer Research U.K. Genetic Epidemiology Unit, Strangeways Research Laboratory, Genetic Epidemiology Unit, Department of Public Health and Primary Care, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Department of Molecular Biology and Genetics, Cornell University, Clinical Genetics Service, Memorial Sloane Kettering Cancer Center [New York], New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-NYU Cancer Institute, Harvard Medical School [Boston] (HMS), Cornell University [New York], University of Cambridge [UK] (CAM), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Universita degli Studi di Padova, Mount Sinai Hospital [Toronto, Canada] (MSH), Abramson Family Cancer Research Institute-Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Universidad de Valladolid [Valladolid] (UVa), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), University College of London [London] (UCL), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Universitätsklinikum Ulm - University Hospital of Ulm, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Westfälische Wilhelms-Universität Münster (WWU), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Klinische Genetica, Universitat de Barcelona, Internal Medicine, Pediatric Surgery, Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Mount Sinai Hospital (MSH), Technical University of Munich (TUM), Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Institut Curie, Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Human genetics, CCA - Oncogenesis |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Linkage disequilibrium
endocrine system diseases MESH : BRCA2 Protein MESH : Genotype Deafness MESH: Base Sequence MESH: Founder Effect [ SDV.CAN ] Life Sciences [q-bio]/Cancer MESH: Genotype 0302 clinical medicine MESH: BRCA2 Protein MESH : Polychondritis Relapsing MESH : Female Polychondritis Relapsing skin and connective tissue diseases Genetics (clinical) Sequence Deletion MESH: Heterozygote Genetics 0303 health sciences education.field_of_study BRCA1 Protein Tay-Sachs disease MESH: Sequence Deletion Founder Effect Ashkenazi jews 3. Good health MESH : Jews MESH : Computer Simulation 030220 oncology & carcinogenesis MESH: Jews Female MESH: Polychondritis Relapsing Heterozygote MESH : Heterozygote MESH : Deafness Genotype Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1] Population MESH : Founder Effect MESH: Deafness MESH: Arthritis [SDV.CAN]Life Sciences [q-bio]/Cancer Biology Article Chromosomes 03 medical and health sciences SDG 3 - Good Health and Well-being MESH: Computer Simulation medicine Humans Computer Simulation MESH : BRCA1 Protein education Allele frequency MESH : Haplotypes 030304 developmental biology MESH: BRCA1 Protein BRCA2 Protein MESH: Humans Hereditary cancer and cancer-related syndromes [ONCOL 1] Base Sequence Arthritis MESH : Sequence Deletion Haplotype MESH : Humans MESH: Haplotypes MESH : Arthritis medicine.disease Cromosomes Haplotypes Jews MESH : Base Sequence Selective sweep MESH: Female Founder effect |
| Zdroj: | Human Genetics Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. 〈10.1007/s00439-011-1003-z〉 Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. ⟨10.1007/s00439-011-1003-z⟩ Human Genetics, 130(5), 685-699. Springer Im, K M, Kirchhoff, T, Wang, X S, Green, T, Chow, C Y, Vijai, J, Korn, J, Gaudet, M M, Fredericksen, Z, Pankratz, V S, Guiducci, C, Crenshaw, A, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, O M, Mai, P L, Greene, M H, Piedmonte, M, Rubinstein, W S, Hogervorst, FB, Rookus, M A, Collee, J M, Hoogerbrugge, N, van Asperen, C J, Meijers-Heijboer, E J, van Roozendaal, C E, Caldes, T, Perez-Segura, P, Jakubowska, A, Lubinski, J, Huzarski, T, Blecharz, P, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Barkardottir, R B, Montagna, M, D'Andrea, E, Devilee, P, Olopade, O I, Neuhausen, S L, Peissel, B, Bonanni, B, Peterlongo, P, Singer, C F, Rennert, G, Lejbkowicz, F, Andrulis, I L, Glendon, G, Ozcelik, H, Toland, A E, Caligo, M A, Beattie, M S, Chan, S, Domchek, S M, Nathanson, K L, Rebbeck, T R, Phelan, C, Narod, S, John, E M, Hopper, J L, Buys, S S, Daly, M B, Southey, M C, Terry, M B, Tung, N, Hansen, T V O, Osorio, A, Benitez, J, Duran, M, Weitzel, J N, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C T, Frost, D, Platte, R, Evans, D G, Eeles, R, Izatt, L, Paterson, J, Brewer, C, Hodgson, S, Morrison, P J, Porteous, M, Walker, L, Rogers, M T, Side, L E, Godwin, A K, Schmutzler, R K, Wappenschmidt, B, Laitman, Y, Meindl, A, Deissler, H & Varon-Mateeva, R 2011, ' Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers ', Human Genetics, vol. 130, no. 5, pp. 685-699 . https://doi.org/10.1007/s00439-011-1003-z Human Genetics, 130, 685-99 Human genetics, 130(5), 685-699. Springer Verlag Recercat. Dipósit de la Recerca de Catalunya instname Digital.CSIC. Repositorio Institucional del CSIC Human Genetics, 130(5), 685-699. Springer-Verlag Dipòsit Digital de la UB Universidad de Barcelona Human Genetics, 130(5), 685-699 Human Genetics, 130(5), 685-699. Springer Verlag Human Genetics, 130, 5, pp. 685-99 |
| ISSN: | 0340-6717 1432-1203 |
| DOI: | 10.1007/s00439-011-1003-z〉 |
| Popis: | Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage disequilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of BRCA1 and BRCA2 mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the BRCA1 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the BRCA2 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews. |
| Databáze: | OpenAIRE |
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