The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Autor: Colombo, M., Lopez-Perolio, I., Meeks, H.D., Caleca, L., Parsons, M.T., Li, H.Y., Vecchi, G. de, Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E.B.G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A.Y., Varesco, L., Wappenschmidt, B., Bolla, M.K., Dennis, J., Michailidou, K., Wang, Q., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Arndt, V., Beckmann, M.W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D.M., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Devilee, P., Dork, T., Eriksson, M., Fasching, P.A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., Garcia-Closas, M., Giles, G.G., Gonzalez-Neira, A., Guenel, P., Haiman, C.A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J.L., Jakubowska, A., Jung, A., Kosma, V.M., Lambrechts, D., Marchand, L. le, Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R.L., Neuhausen, S.L., Nevanlinna, H., Olson, J.E., Peterlongo, P., Peto, J., Pylkas, K., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., See, M.H., Southey, M.C., Swerdlow, A., Teo, S.H., Toland, A.E., Tomlinson, I., Truong, T., Asperen, C.J. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A.M., Easton, D.F., Henderson, A., Hogervorst, F.B.L., Izatt, L., Offitt, K., Side, L.E., Rensburg, E.J. van, McGuffog, L., Antoniou, A.C., Chenevix-Trench, G., Spurdle, A.B., Goldgar, D.E., Hoya, M. de la, Radice, P., kConFab AOCS Investigators, Study EMBRACE, Study HEBON

Publikováno v: Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; Li, H; et al.(2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.. Human mutation, 39(5), 729-741. doi: 10.1002/humu.23411. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4zx2r18x
Human Mutation: Variation, Informatics and Disease, 39(5), 729-741

Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fed873f1f7a4d156ff84a6b93c479bc8
http://www.escholarship.org/uc/item/4zx2r18x

Refined histopathological predictors of BRCA1\ud and BRCA2 mutation status: a large-scale analysis\ud of breast cancer characteristics from the BCAC,\ud CIMBA, and ENIGMA consortia

Autor: Spurdle, A.B., Couch, F.J., Parsons, M.T., McGuffog, L., Barrowdale, D., Bolla, M.K., Wang, Q., Healey, S., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Ellis, S., Frost, D., Platte, R., Perkins, J., Evans, D.G., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Scuvera, G., Manoukian, S., Bonanni, B., Mariette, F., Fortuzzi, S., Viel, A., Pasini, B., Papi, L., Varesco, L., Balleine, R., Nathanson, K.L., Domchek, S.M., Offitt, K., Jakubowska, A., Lindor, N., Thomassen, M., Jensen, U.B., Rantala, J., Borg, A., Andrulis, I.L., Miron, A., Hansen, T.V.O., Caldes, T., Neuhausen, S.L., Toland, A.E., Nevanlinna, H., Montagna, M., Garber, J., Godwin, A.K., Osorio, A., Factor, R.E., Terry, M.B., Rebbeck, T.R., Karlan, B.Y., Southey, M., Rashid, M.U., Tung, N., Pharoah, P.D.P., Blows, F.M., Dunning, A.M., Provenzano, E., Hall, P., Czene, K., Schmidt, M.K., Broeks, A., Cornelissen, S., Verhoef, S., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Slamon, D.J., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Seibold, P., Aittomaki, K., Muranen, T.A., Heikkila, P., Blomqvist, C., Figueroa, J., Chanock, S.J., Brinton, L., Lissowska, J., Olson, J.E., Pankratz, V.S., John, E.M., Whittemore, A.S., West, D.W., Hamann, U., Torres, D., Ulmer, H.U., Rudiger, T., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Van Asperen, C.J., Eccles, D.M., Tapper, W.J., Durcan, L., Jones, L., Peto, J., dos-Santos-Silva, I., Fletcher, O., Johnson, N., Dwek, M., Swann, R., Bane, A.L., Glendon, G., Mulligan, A.M., Giles, G.G., Milne, R.L., Baglietto, L., McLean, C., Carpenter, J., Clarke, C., Scott, R., Brauch, H., Bruning, T., Ko, Y-D., Cox, A., Cross, S.S., Reed, M.W.R., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Gronwald, J., Dork, T., Bogdanova, N., Park-Simon, T-W., Hillemanns, P., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Burwinkel, B., Marme, F., Surovy, H., Yang, R., Anton-Culver, H., Ziogas, A., Hooning, M.J., Collee, J.M., Martens, J.W.M., Tilanus-Linthorst, M.M.A., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Lindblom, A., Margolin, S., Joseph, V., Robson, M., Rau-Murthy, R., Gonzalez-Neira, A., Arias, J.I., Zamora, P., Benitez, J., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J.M., Peterlongo, P., Zaffaroni, D., Barile, M., Capra, F., Radice, P., Teo, S.H., Easton, D.F., Antoniou, A.C., Chenevix-Trench, G., Goldgar, D.E., Investigators, ABCTB, Group, EMBRACE, Network, GENICA, Group, HEBON, Investigators, KConFab

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline\ud mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have\ud utility for mutati

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The Peshkin/Isaacs article.

Autor: Offitt K

Publikováno v: Oncology (08909091); Oct2005, Vol. 19 Issue 11, p1459-1462, 3p

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Autor: Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Lòpez-Perolio I; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Caleca L; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Li H; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., De Vecchi G; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Foglia C; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Mondini P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Behar R; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Garcia EBG; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands., Meindl A; Department of Obstetrics and Gynecology, University Hospital, LMU Munich, Germany., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Duesseldorf, Germany., Schmidt AY; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Varesco L; Hereditary Cancer Unit, IRCCS AOU San Martino -IST, Genova, Italy., Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario.; Department of Molecular Genetics, University of Toronto, Toronto, Canada., Anton-Culver H; Department of Epidemiology, University of California Irvine, Irvine, California., Arndt V; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Beckmann MW; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany., Beeghly-Fadel A; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Benitez J; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Boeckx B; VIB Center for Cancer Biology, VIB, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium., Bogdanova NV; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus., Bojesen SE; Copenhagen General Population Study, Herlevand Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Brauch H; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.; University of Tübingen, Tübingen, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany., Burwinkel B; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany., Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Research Group Genetic Cancer Epidemiology, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Conroy DM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, New York., Cox A; Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Cross SS; Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Devilee P; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dörk T; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Eriksson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Fasching PA; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.; David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, California., Figueroa J; Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Fletcher O; The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK., Flyger H; Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark., Gabrielson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., García-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Giles GG; Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., González-Neira A; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain., Guénel P; Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Hamann U; Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany., Hartman M; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Department of Surgery, National University Health System, Singapore, Singapore., Hauke J; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Hollestelle A; Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Jung A; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Kosma VM; Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Lambrechts D; VIB Center for Cancer Biology, VIB, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium., Le Marchand L; Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Mannermaa A; Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Margolin S; Department of Clinical Science and Education Södersjukhuset, Karolinska Institutet, Stockholm, Sweden., Miao H; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Milne RL; Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Olson JE; Department of Health Sciences Research, Mayo Clinic, Rochester, New York., Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy., Peto J; Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.; Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland., Sawyer EJ; Research Oncology, Guy's Hospital, King's College London, London, UK., Schmidt MK; Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Schneeweiss A; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany., Schoemaker MJ; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., See MH; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia., Southey MC; Department of Pathology, The University of Melbourne, Melbourne, Australia., Swerdlow A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.; Division of Breast Cancer Research, The Institute of Cancer Research, London, UK., Teo SH; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Toland AE; Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio., Tomlinson I; 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Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Henderson A; Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK., Hogervorst FBL; Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Izatt L; Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Offitt K; Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York., Side LE; Wessex Clinical Genetics Service, Mailpoint 627, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA., van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Pretoria, South Africa., Embrace S; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK., Hebon S; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Coordinating center: Netherlands Cancer Institute, Amsterdam, The Netherlands., McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Goldgar DE; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Hoya M; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

Publikováno v: Human mutation [Hum Mutat] 2018 May; Vol. 39 (5), pp. 729-741. Date of Electronic Publication: 2018 Apr 06.