Evidence map›Paper›PMID 27796716›Full record

ArticleBreast cancer research and treatment2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason and 162 more

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

Article in Breast cancer research and treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 8% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Response to Dr. Sorscher.Journal of genetic counseling · 2017
    Article
  12. Article
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

172 authors at 20 institutions in 28 countries.

Yosr HamdiGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Karoline B KuchenbaekerCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Tomi PastinenDepartment of Human Genetics, McGill University, Montreal, QC, H3A 1B1, Canada.
Arnaud DroitGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Audrey LemaçonGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Julian AdlardYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, HUS, Meilahdentie 2, P.O. BOX 160, 00029, Helsinki, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.
Adalgeir ArasonDepartment of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101, Reykjavík, Iceland.
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105, Kiel, Germany.
Banu K ArunDepartment of Breast Medical Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, 1515 Pressler Street CBP 5, Houston, TX, 77030, USA.
Jacopo AzzolliniUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Anita BaneDepartment of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, 711 Concession Street, Hamilton, ON, L8V 1C3, Canada.
Laure BarjhouxBâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Javier BenitezHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Pascaline BerthetCentre François Baclesse, 3 avenue Général Harris, 14076, Caen, France.
Marinus J BlokDepartment of Clinical Genetics, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
Kristie BobolisCity of Hope Clinical Cancer Genomics Community Research Network, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Valérie BonadonaUnité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Ripamonti 435, 20141, Milan, Italy.
Angela R BradburyDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Carole BrewerDepartment of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, EX1 2ED, UK.
Bruno BuecherService de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA.
Maria A CaligoSection of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy.
Jocelyne ChiquetteUnité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Quebec, QC, G1S 4L8, Canada.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Mary B DalyDivision of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Francesca DamiolaBâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Rosemarie DavidsonDepartment of Clinical Genetics, South Glasgow University Hospitals, Glasgow, G51 4TF, UK.
Miguel De la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
Kim De LeeneerCenter for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Orland DiezOncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital, Clinical and Molecular Genetics Area, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Yuan Chun DingDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Riccardo DolcettiCancer Bioimmunotherapy Unit, Department of Medical Oncology, Centro di Riferimento Oncologico, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) National Cancer Institute, Via Franco Gallini 2, 33081, Aviano, PN, Italy.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Cecilia M DorflingCancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
Diana EcclesFaculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK.
Ros EelesOncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, SM2 5NG, UK.
Zakaria EinbeigiDepartment of Oncology, Sahlgrenska University Hospital, 41345, Göteborg, Sweden.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
EMBRACE
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.
D Gareth EvansGenomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
Lidia FeliubadaloMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, 65653, Brno, Czech Republic.
Florentia FostiraMolecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research "Demokritos", Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi Attikis, Athens, Greece.
William D FoulkesProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.
George FountzilasDepartment of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloníki, Greece.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Pamela GanschowClinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Patricia A GanzUCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA, 90095-6900, USA.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, USA.
Simon A GaytherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
GEMO Study Collaborators
Anne-Marie GerdesDepartment of Clincial Genetics, Rigshospitalet, Blegdamsvej 9, 4062, Copenhagen, Denmark.
Gord GlendonLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, Kansas City, Kansas, USA.
David E GoldgarDepartment of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT, 84132, USA.
Mark H GreeneClinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Eric HahnenCentre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany.
Thomas V O HansenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Steven HartDepartment of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
John L HaysDivision of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH, 43210, USA.
HEBON
Frans B L HogervorstFamily Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE, Amsterdam, The Netherlands.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL, 60201, USA.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia, 197758.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, 20007, USA.
Louise IzattClinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Paul JamesFamilial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, 3000, Australia.
Ramunas JanaviciusHematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, 08661, Vilnius, Lithuania.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Århus N, Denmark.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA, 94538, USA.
Vijai JosephClinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
Walter JustInstitute of Human Genetics, University of Ulm, 89091, Ulm, Germany.
Katarzyna KaczmarekDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, 90048, USA.
KConFab Investigators
Carolien M KetsDepartment of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Judy KirkWestmead Hospital, Familial Cancer Service, Hawkebury Road, P.O. Box 533, Wentworthville, NSW, 2145, Australia.
Mieke KriegeDepartment of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, P.O. Box 5201, 3008 AE, Rotterdam, The Netherlands.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Maïté LaurentService de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Conxi LazaroMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Goska LeslieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, 90048, USA.
Fabienne LesueurGenetic Epidemiology of Cancer Team, INSERM U900, Institut Curie Mines ParisTech, PSL University, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Annelie LiljegrenDepartment of Oncology, Karolinska University Hospital, 17176, Stockholm, Sweden.
Niklas LomanDepartment of Oncology, Lund University Hospital, 22185, Lund, Sweden.
Jennifer T LoudClinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Milena MarianiUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Sylvie MazoyerLyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR5292, University of Lyon, Lyon, France.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Hanne E J Meijers-HeijboerDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.
Alfons MeindlDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105, Kiel, Germany.
Austin MillerNRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY, 14263, USA.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128, Padua, Italy.
Anna Marie MulliganDepartments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, HUS, P.O. BOX 700, 00029, Helsinki, Finland.
Robert L NussbaumDepartment of Medicine and Genetics, University of California, 513 Parnassus Ave., HSE 901E, San Francisco, CA, 94143-0794, USA.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I OlopadeDepartment of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL, USA.
Kai-Ren OngWest Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK.
Jan C OosterwijkDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB, Groningen, The Netherlands.
Ana OsorioHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Laura PapiUnit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134, Florence, Italy.
Sue Kyung ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799, Korea.
Inge Sokilde PedersenSection of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark.
Bernard PeisselUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Pedro Perez SeguraDepartment of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
Paolo PeterlongoIFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139, Milan, Italy.
Catherine M PhelanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, 33612, USA.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133, Milan, Italy.
Johanna RantalaDepartment of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76, Stockholm, Sweden.
Christine Rappaport-FuerhauserDepartment of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Gad RennertClalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362, Haifa, Israel.
Andrea RichardsonDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Mark RobsonClinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.
Gustavo C RodriguezDivision of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, 2650 Ridge Avenue, Suite 1507, Walgreens, Evanston, IL, 60201, USA.
Matti A RookusDepartment of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE, Amsterdam, The Netherlands.
Rita Katharina SchmutzlerCentre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
Nicolas SevenetOncogénétique, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux, France.
Payal D ShahDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Christian F SingerDepartment of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Thomas P SlavinClinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Katie SnapeMedical Genetics Unit, St George's, University of London, London, SW17 0RE, UK.
Johanna SokolowskaLaboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511, Vandoeuvre-les-Nancy, France.
Ida Marie Heeholm SønderstrupDepartment of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark.
Melissa SoutheyGenetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC, 3010, Australia.
Amanda B SpurdleGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
Zsofia StadlerClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, USA.
Dominique Stoppa-LyonnetService de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Grzegorz SukiennickiDepartment of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Christian SutterInstitute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Yen TanDepartment of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Muy-Kheng TeaDepartment of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Soo-Hwang TeoCancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500, Subang Jaya, Malaysia.
Mary Beth TerryDepartment of Epidemiology, Columbia University, New York, NY, USA.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark.
Laima TihomirovaLatvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.
Silvia TognazzoImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128, Padua, Italy.
Amanda Ewart TolandDivision of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, 43210, USA.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA, 02215, USA.
Ans M W van den OuwelandDepartment of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands.
Rob B van der LuijtDepartment of Medical Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
Klaartje van EngelenDepartment of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.
Elizabeth J van RensburgCancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
Raymonda Varon-MateevaInstitute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353, Berlin, Germany.
Barbara WappenschmidtCentre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
Juul T WijnenDepartment of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.
Timothy RebbeckDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Georgia Chenevix-TrenchGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
Kenneth OffitClinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
Fergus J CouchDepartment of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Silje NordDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372, Oslo, Norway.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada. Jacques.Simard@crchudequebec.ulaval.ca.
Memorial Sloan Kettering Cancer Center · USUniversity of Cambridge · GBCedars-Sinai Medical Center · USCentre hospitalier universitaire de Québec · CACity of Hope · USMayo Clinic · USMount Sinai Hospital · CANorthShore University HealthSystem · USSpanish National Cancer Research Centre · ESChristian-Albrechts-Universität zu Kiel · DECopenhagen University Hospital · DKErasmus MC · NLKarolinska University Hospital · SEQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AUAristotle University of Thessaloniki · GRBeth Israel Deaconess Medical Center · USCentre Léon Bérard · FRColumbia University · USFondazione IRCCS Istituto Nazionale dei Tumori · IT

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
WORD PROCESSING CENTER--COREP30CA006927 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI Margaret von Mehren · 1985 to 2026
$138.8M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
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
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6 · The paper itself

Abstract

purposeCis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.

methodsUsing data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.

resultsWe identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10

conclusionWe identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.

Indexed as

AllelesGenes, BRCA1Genes, BRCA2HeterozygoteMutationBiomarkers, TumorBreast NeoplasmsChromosomes, Human, Pair 11FemaleGene ExpressionGenetic Predisposition to DiseaseGenetic VariationHumansQuantitative Trait LociRiskBiomarkers, TumorBRCA1 and BRCA2 mutation carriersBreast cancerCis-regulatory variantsDifferential allelic expressionGenetic modifiersGenetic susceptibility

Identifiers

PMID27796716
PMCPMC5222911
OpenAlexW2544044666

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