Evidence map›Paper›PMID 29446198›Full record

ArticleHuman mutation2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo and 235 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 193 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
193citing papers in PubMed, 6 pooled it
26.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

193 citing papers in PubMed, 6 syntheses or guidelines pooled it, 305 citations in OpenAlex.

  1. Pathogenic variants inJournal of medicine and life · 2025
    Pooled it
  2. Pooled it
  3. Guideline
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Article
  8. Bridging the gap: integrating hereditary cancer into precision oncology.European journal of human genetics : EJHG · 2026
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026
    Article
  17. Article
  18. Article
  19. Article
  20. Review

133 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

245 authors at 20 institutions in 33 countries.

Timothy R RebbeckHarvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, USA.
Tara M FriebelHarvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, USA.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Dezheng HuoCenter for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, USA.
Ava KwongThe Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong, China.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, USA.
Angela R SolanoINBIOMED, Faculty of Medicine, University of Buenos Aires/CONICET and CEMIC, Department of Clinical Chemistry, Medical Direction, Buenos Aires, Argentina.
Soo-Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Jeffrey N WeitzelDivision of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
T L ChanDivision of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, and Health Sciences Research, Rochester, USA.
David E GoldgarDepartment of Dermatology, University of Utah School of Medicine, Salt Lake City, USA.
Torben A KruseDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Edenir Inêz PalmeroMolecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.
Sue Kyung ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Elizabeth J van RensburgCancer Genetics Laboratory, Department of Genetics, University of Pretoria, South Africa.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Michael T ParsonsGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Cora M AalfsDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Julio AbugattasCity of Hope Clinical Cancer Genomics Community Research Network, Duarte, USA.
Julian AdlardYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Simona AgataImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Lesley AndrewsHereditary Cancer Clinic, Prince of Wales Hospital, Randwick, Australia.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute, Toronto, Canada.
Adalgeir ArasonLaboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Norbert ArnoldDepartment of Gynaecology & Oncology, Medical University of Vienna, Austria.
Banu K ArunDepartment of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Ella AsseryanisDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Leo AuerbachDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Jacopo AzzolliniUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Judith BalmañaDepartment of Medical Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.
Monica BarileDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Rosa B BarkardottirLaboratory of Cell Biology, Department of Pathology, hus 9, Landspitali-LSH v/Hringbraut, 101 Reykjavik, Iceland and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Javier BenitezHuman Genetics Group and Genotyping Unit (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Andreas BergerDept of OB/GYN, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Raanan BergerThe Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel.
Amie M BlancoUCSF Cancer Genetics and Prevention Program, San Francisco, USA.
Kathleen R BlazerDivision of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
Marinus J BlokDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Valérie BonadonaUnité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, Lyon, France.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
Angela R BradburyDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Carole BrewerDepartment of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK.
Bruno BuecherService de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, USA.
Trinidad CaldesMolecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Almuth CaliebeInstitute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel, Germany.
Maria A CaligoSection of Molecular Genetics, Dept. of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
Ian CampbellResearch Division, Peter MacCallum Cancer Centre, Melbourne, Australia.
Sandrine M CaputoService de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Jocelyne ChiquetteCRCHU de Quebec-oncologie, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Sainte-Foy, Canada.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, USA.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University, Gent, Belgium.
J Margriet ColléeDepartment of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
Jackie CookSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Rosemarie DavidsonDepartment of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Kim De LeeneerCenter for Medical Genetics, Ghent University, Gent, Belgium.
Antoine de PauwService de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Capucine DelnatteUnité d'oncogénétique, ICO-Centre René Gauducheau, Saint Herblain, France.
Orland DiezOncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Barcelona, Spain.
Yuan Chun DingDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Nina DitschDepartment of Gynaecology and Obstetrics, Ludwig-Maximilian University, Munich, Germany.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Cecilia M DorflingCancer Genetics Laboratory, Department of Genetics, University of Pretoria, South Africa.
Carolina VelazquezCáncer Hereditario, Instituto de Biología y Genética Molecular, IBGM, Universidad de Valladolid, Valladolid, Spain.
Bernd DworniczakInstitute of Human Genetics, University of Münster, Münster, Germany.
Jacqueline EasonNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Ros EelesOncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.
Hans EhrencronaDepartment of Clinical Genetics, Lund University Hospital, Lund, Sweden.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
EMBRACECentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Stefanie EngertDepartment of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University, Munich, Germany.
D Gareth EvansGenomic Medicine, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Laurence FaivreCentre de Lutte Contre le Cancer Georges François Leclerc, France and Genomic and Immunotherapy Medical Institute, Dijon University Hospital, Dijon, France.
Lidia FeliubadalóMolecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute), Barcelona, Spain.
Sandra Fert FerrerLaboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Jeffrey FowlerColumbus Cancer Council, Ohio State University, Columbus, USA.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Henrique C R GalvãoOncogenetics Department, Barretos Cancer Hospital, Barretos, Brazil.
Patricia A GanzUCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, Los Angeles, USA.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, USA.
Marion Gauthier-VillarsService de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France.
Andrea GehrigCentre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University of Würzburg, Germany, Würzburg.
GEMO Study CollaboratorsDepartment of Tumour Biology, Institut Curie, Paris, France.
Anne-Marie GerdesDepartment of Clinical Genetics, Copenhagen, Denmark.
Paul GestaService Régional Oncogénétique Poitou-Charentes, Centre Hospitalier, Niort, France.
Giuseppe GianniniDepartment of Molecular Medicine, University La Sapienza, and Istituto Pasteur - Fondazione Cenci-Bolognetti, Rome, Italy.
Sophie GiraudBâtiment Cheney D, Centre Léon Bérard, Lyon, France.
Gord GlendonOntario Cancer Genetics Network: Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, USA.
Mark H GreeneClinical Genetics Branch, DCEG, NCI, NIH, Bethesda, USA.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Angelica Gutierrez-BarreraDepartment of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Jan HaukeCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
HEBONThe Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Netherlands Cancer Institute, Amsterdam, The Netherlands.
Alex HendersonInstitute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.
Julia HentschelInstitute of Human Genetics, University Leipzig, Leipzig, Germany.
Frans B L HogervorstFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Ellen HonischDepartment of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, USA.
Louise IzattClinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Angel IzquierdoGenetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paul JamesParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia.
Ramunas JanaviciusHematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, USA.
Joseph VijaiClinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Katarzyna KaczmarekDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, USA.
Karin KastDepartment of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Dresden, Germany.
KConFab InvestigatorsResearch Department, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia and The Sir Peter MacCallum Department of Oncology University of Melbourne, Parkville, Australia.
Sung-Won KimDepartment of Surgery, Daerim St. Mary's Hospital, Seoul, Korea.
Irene KonstantopoulouMolecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research "Demokritos", Athens, Greece.
Jacob KorachThe Gyneco-Oncology Department, Chaim Sheba Medical Center, Ramat Gan, Israel.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Adriana LasaServicio de Genética-CIBERER U705, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Christine LassetUnité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, Lyon, France.
Conxi LázaroMolecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Catalan Institute of Oncology-Bellvitge Biomedical Research Institute), Barcelona, Spain.
Annette LeeThe Feinstein Institute for Medical Research, Manhasset, USA.
Min Hyuk LeeDepartment of Surgery, Soonchunhyang University and Seoul Hospital, Seoul, Korea.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, USA.
Fabienne LesueurInserm U900, Institut Curie, PSL Research University, Paris, France.
Annelie LiljegrenDepartment of Oncology Radiumhemmet and Institution of Oncology and Patology, Karolinska University Hospital and Karolinska Institutet, Solna, Sweden.
Noralane M LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, USA.
Michel LongyOncogénétique, Institut Bergonié, Bordeaux, France.
Jennifer T LoudClinical Genetics Branch, DCEG, NCI, NIH, Bethesda, USA.
Karen H LuDepartment of Gynecological Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, Houston, USA.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Eva MachackovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Véronique MariCentre Antoine Lacassagne, Nice, France.
Cristina Martínez-BouzasLaboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, Barakaldo, Spain.
Zoltan MatraiDepartment of Surgery, National Institute of Oncology, Budapest, Hungary.
Noura MebiroukInserm U900, Institut Curie, PSL Research University, Paris, France.
Hanne E J Meijers-HeijboerDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Alfons MeindlDepartment of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University, Munich, Germany.
Arjen R MensenkampDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Ugnius MickysVilnius university Santariskiu hospital, National Center of Pathology, Vilnius, Lithuania.
Austin MillerNRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, USA.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Kirsten B MoysichDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, USA.
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
Jacob MusinskyClinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, HUS, Finland.
Joanne NgeowCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Bukit Merah, Singapore.
Huu Phuc NguyenInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Dieter NiederacherDepartment of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany.
Henriette Roed NielsenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Finn Cilius NielsenCenter for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Robert L NussbaumCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, USA.
Kenneth OffitClinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA.
Anna ÖfverholmDepartment of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Kai-Ren OngWest Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, UK.
Ana OsorioHuman Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Laura PapiUnit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Janos PappDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Barbara PasiniDepartment of Medical Sciences, University of Turin, Turin, Italy.
Inge Sokilde PedersenSection of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Ana PeixotoDepartment of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal.
Nina PerugaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paolo PeterlongoIFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Esther PohlCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Nisha PradhanClinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Karolina PrajzendancDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Fabienne PrieurService de Génétique Clinique Chromosomique et Moléculaire, Hôpital Nord, St Etienne, France.
Pascal PujolUnité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale Tumori (INT), Milan, Italy.
Susan J RamusSchool of Women's and Children's Health, UNSW, Sydney, Australia.
Johanna RantalaDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Muhammad Usman RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kerstin RhiemCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Mark RobsonClinical Genetics Services, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Gustavo C RodriguezDivision of Gynecologic Oncology, North Shore University Health System, University of Chicago, Evanston, USA.
Mark T RogersAll Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK.
Vilius RudaitisDepartment of Gynecology, Vilnius University Hospital Santariskiu Clinics, Centre of Woman's Health and pathology, Vilnius, Lithuania.
Ane Y SchmidtCenter for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Rita Katharina SchmutzlerCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Leigha SenterClinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, USA.
Payal D ShahDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Priyanka SharmaDepartment of Internal Medicine, Division of Oncology, University of Kansas Medical Center, Westwood, USA.
Lucy E SideNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada.
Christian F SingerDept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Anne-Bine SkytteDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Thomas P SlavinDivision of Clinical Cancer Genomics, City of Hope Cancer Center, California, USA.
Katie SnapeMedical Genetics Unit, University of London, St George's, UK.
Hagay SobolDépartement Oncologie Génétique, Prévention et Dépistage, Institut Paoli-Calmettes, Marseille Medical School-AM University, Marseille, France.
Melissa SoutheyDépartement Oncologie Génétique, Prévention et Dépistage, Institut Paoli-Calmettes, Marseille Medical School-AM University, Marseille, France.
Linda SteeleDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, USA.
Doris SteinemannInstitute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
Grzegorz SukiennickiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Christian SutterInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Csilla I SzaboNational Human Genome Research Institute, National Institutes of Health, Bethesda, USA.
Yen Y TanDept of OB/GYN, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal.
Mary Beth TerryDepartment of Epidemiology, Columbia University, New York, USA.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Gran Via de l'Hospitalet, Barcelona, Spain.
Abigail ThomasDepartment of Health Sciences Research, Mayo Clinic, Rochester, USA.
Darcy L ThullDepartment of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Canada.
Silvia TognazzoImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Amanda Ewart TolandDivision of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, USA.
Sabine TopkaClinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA.
Alison H TrainerParkville Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Massachusetts, USA.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Annemieke H van der HoutDepartment of Genetics, University Medical Center, Groningen University, Groningen, The Netherlands.
Lizet E van der KolkFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Rob B van der LuijtDepartment of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
Mattias Van HeetveldeCenter for Medical Genetics, Ghent University, Gent, Belgium.
Liliana VarescoUnit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Raymonda Varon-MateevaInstitute of Human Genetics, Campus Virchov Klinikum, Berlin, Germany.
Ana VegaFundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Cynthia Villarreal-GarzaDepartamento de Investigacion y de Tumores Mamarios del, Instituto Nacional de Cancerologia, Mexico City, Mexico.
Anna von WachenfeldtDepartment of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Lisa WalkerOxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
Shan Wang-GohrkeDepartment of Gynaecology and Obstetrics, University Hospital, Ulm, Germany.
Barbara WappenschmidtCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Bernhard H F WeberInstitute of Human Genetics, Regensburg University, Regensburg, Germany.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research "Demokritos", Athens, Greece.
Sook-Yee YoonCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Cristina ZanzotteraUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Instituto Nazionale Tumori (INT), Milan, Italy.
Jamal ZidanInstitute of Oncology, Rivka Ziv Medical Center, Zefat, Israel.
Kristin K ZornMagee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Christina G Hutten SelkirkCenter for Medical Genetics, North Shore University Health System, Evanston, USA.
Peter J HulickMedical Director, Center for Medical Genetics, NorthShore University HealthSystem, Clinical Assistant Professor of Medicine, University of Chicago Pritzker School of Medicine, Evanston, USA.
Georgia Chenevix-TrenchGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Amanda B SpurdleGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Memorial Sloan Kettering Cancer Center · USUniversity of Cambridge · GBCity of Hope · USComprehensive Cancer Center Vienna · ATNational Institutes of Health · USNorthShore University HealthSystem · USCedars-Sinai Medical Center · USInstitut d'Investigació Biomédica de Bellvitge · ESKarolinska University Hospital · SENational Centre of Scientific Research "Demokritos" · GRRoswell Park Comprehensive Cancer Center · USThe University of Melbourne · AUUniversidade do Porto · PTUniversity of Copenhagen · DKUniversity of Pittsburgh · USAarhus University Hospital · DKCentre Léon Bérard · FRFondazione IRCCS Istituto Nazionale dei Tumori · ITGerman Cancer Research Center · DEGhent University · BE

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Mei-Yin C Polley · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
Translational Therapeutics Research Program (TT)P30CA016058 · NCI · OHIO STATE UNIVERSITY · PI Tasleem J Padamsee · 1985 to 2026
$132.3M
Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI STEPHEN W BYERS · 1990 to 2026
$71.5M
GYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Transgenic & Gene-Targeting Shared ResourceP30CA168524 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI NICOLE L NOLLEN · 2012 to 2026
$40.1M
Cancer Research UK 12677Cancer Research UK 15007Cancer Research UK 16563Cancer Research UK 17528Cancer Research UK 20861Cancer Research UK 23382Cancer Research UK C12292/A11174Cancer Research UK C12292/A20861Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A 10710Cancer Research UK C1287/A11990Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C5047/A8385Cancer Research UK C8197/A16565Medical Research Council MR/P012930/1NCATS NIH HHS UL1 TR000124NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016058NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA083855NCI NIH HHS R01 CA102776NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA176785NCI NIH HHS R25 CA171998NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA113916NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UG1 CA189867NCI NIH HHS UM1 CA164920Wellcome Trust 203477/Z/16/Z
6 · The paper itself

Abstract

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

Indexed as

InternationalityBRCA1 ProteinBRCA2 ProteinDatabases, GeneticFamilyGeographyHumansMutationBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2breast cancerethnicitygeographymutationovarian cancer

Identifiers

PMID29446198
PMCPMC5903938
OpenAlexW2789006266

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.