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Inheritance of dele...
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Rebbeck, Timothy R.Dana-Farber Cancer Institute
(author)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2016-11-11
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Springer Science and Business Media LLC,2016
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:e9fbd2af-125e-425d-84cf-fbd3c4ea8799
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https://lup.lub.lu.se/record/e9fbd2af-125e-425d-84cf-fbd3c4ea8799URI
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https://doi.org/10.1186/s13058-016-0768-3DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Friebel, Tara M.Dana-Farber Cancer Institute
(author)
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Mitra, NanditaUniversity of Pennsylvania
(author)
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Wan, FeiKaiser Permanente Research Institute
(author)
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Chen, StephanieUniversity of Southern California
(author)
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Andrulis, Irene L.University of Toronto
(author)
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Apostolou, ParaskeviNational Centre for Scientific Research Demokritos
(author)
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Arnold, NorbertUniversity Medical Center Schleswig-Holstein
(author)
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Arun, Banu K.University of Texas
(author)
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Barrowdale, DanielQIMR Berghofer Medical Research Institute
(author)
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Benitez, JavierSpanish National Cancer Research Center (CNIO)
(author)
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Berger, RaananSheba Medical Center
(author)
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Berthet, PascalineCentre François Baclesse
(author)
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Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,Skåne University Hospital(Swepub:lu)onk-abo
(author)
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Buys, Saundra S.Huntsman Cancer Institute
(author)
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Caldes, TrinidadHospital Clinico San Carlos de Madrid
(author)
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Carter, JonathanRoyal Prince Alfred Hospital
(author)
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Chiquette, JocelyneHôpital du Saint-Sacrement
(author)
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Claes, Kathleen B MGhent University Hospital
(author)
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Couch, Fergus J.Mayo Clinic Minnesota
(author)
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Cybulski, CezaryPomeranian Medical University
(author)
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Daly, Mary B.Fox Chase Cancer Center
(author)
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de la Hoya, MiguelHospital Clinico San Carlos de Madrid
(author)
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Diez, OrlandVall d'Hebron University Hospital
(author)
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Domchek, Susan M.Cochin Hospital
(author)
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Nathanson, Katherine L.Cochin Hospital
(author)
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Durda, KatarzynaPomeranian Medical University
(author)
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Ellis, SteveUniversity of Cambridge
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Evans, D. GarethUniversity of Manchester,Manchester University NHS Foundation Trust
(author)
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Foretova, LenkaMasaryk Memorial Cancer Institute
(author)
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Friedman, EitanTel-Aviv University
(author)
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Frost, DebraUniversity of Cambridge
(author)
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Ganz, Patricia A.Jonsson Comprehensive Cancer Center
(author)
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Garber, JudyDana-Farber Cancer Institute
(author)
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Glendon, GordMount Sinai Hospital of University of Toronto
(author)
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Godwin, Andrew K.University of Kansas Medical Center
(author)
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Greene, Mark H.National Cancer Institute, USA
(author)
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Gronwald, JacekPomeranian Medical University
(author)
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Hahnen, EricUniversity Hospital of Cologne
(author)
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Hallberg, EmilyMayo Clinic Scottsdale-Phoenix, Arizona
(author)
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Hamann, UteGerman Cancer Research Centre
(author)
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Hansen, Thomas V OCopenhagen University Hospital
(author)
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Imyanitov, Evgeny N.N. N. Petrov Institute of Oncology
(author)
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Isaacs, ClaudineLombardi Comprehensive Cancer Center
(author)
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Jakubowska, AnnaPomeranian Medical University
(author)
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Janavicius, RamunasState Research Institute Centre for Innovative Medicine
(author)
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Jaworska-Bieniek, KatarzynaPomeranian Medical University
(author)
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John, Esther M.Cancer Prevention Institute of California
(author)
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Karlan, Beth Y.Cedars-Sinai Medical Center
(author)
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Kaufman, BellaSheba Medical Center
(author)
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Kwong, AvaUniversity of Hong Kong
(author)
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Laitman, YaelTel-Aviv University
(author)
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Lasset, ChristineCentre Léon Bérard
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Lazaro, ConxiBellvitge Biomedical Research Institute
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Lester, JennyCedars-Sinai Medical Center
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Loman, NiklasLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)onk-nlo
(author)
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Lubinski, JanPomeranian Medical University
(author)
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Manoukian, SiranoushIstituto Nazionale dei Tumori
(author)
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Mitchell, GillianUniversity of Melbourne
(author)
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Montagna, MarcoVeneto Institute of Oncology
(author)
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Neuhausen, Susan L.City of Hope National Medical Center
(author)
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Nevanlinna, HeliUniversity of Helsinki
(author)
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Niederacher, DieterUniversity Hospital of Düsseldorf
(author)
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Nussbaum, Robert L.
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Offit, KennethMemorial Sloan-Kettering Cancer Center
(author)
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Olah, EdithNational Institute of Oncology, Budapest
(author)
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Olopade, Olufunmilayo I.
(author)
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Park, Sue KyungSeoul National University
(author)
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Piedmonte, MarionRoswell Park Cancer Institute
(author)
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Radice, PaoloIstituto Nazionale dei Tumori
(author)
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Rappaport-Fuerhauser, ChristineMedical University of Vienna
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Rookus, Matti A.Netherlands Cancer Institute
(author)
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Seynaeve, CarolineErasmus University Medical Center
(author)
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Simard, JacquesLaval University
(author)
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Singer, Christian F.Medical University of Vienna
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Soucy, PennyLaval University
(author)
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Southey, MelissaUniversity of Melbourne
(author)
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Stoppa-Lyonnet, DominiqueCurie Institute, Paris
(author)
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Sukiennicki, GrzegorzPomeranian Medical University
(author)
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Szabo, Csilla I.National Human Genome Research Institute
(author)
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Tancredi, MariellaUniversity Hospital of Pisa
(author)
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Teixeira, Manuel R.Instituto Português de Oncologia do Porto Francisco Gentil (IPO)
(author)
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Teo, Soo HwangUniversity of Malaya
(author)
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Terry, Mary BethColumbia University
(author)
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Thomassen, MadsOdense University Hospital
(author)
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Tihomirova, LaimaLatvian Biomedical Research and Study Centre
(author)
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Tischkowitz, MarcMcGill University
(author)
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Toland, Amanda EwartOhio State University
(author)
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Toloczko-Grabarek, AleksandraPomeranian Medical University
(author)
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Tung, NadineBeth Israel Deaconess Medical Center
(author)
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van Rensburg, Elizabeth J.University of Pretoria
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Villano, DanyloMemorial Sloan-Kettering Cancer Center
(author)
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Wang-Gohrke, ShanUniversity Hospital of Ulm
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Wappenschmidt, BarbaraUniversity Hospital of Cologne
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Weitzel, Jeffrey N.City of Hope National Medical Center
(author)
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Zidan, JamalBar-Ilan University
(author)
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Zorn, Kristin K.
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McGuffog, LesleyUniversity of Cambridge
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Easton, DouglasUniversity of Cambridge
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Chenevix-Trench, GeorgiaQIMR Berghofer Medical Research Institute
(author)
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Antoniou, Antonis C.University of Cambridge
(author)
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Ramus, Susan J.University of New South Wales
(author)
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Dana-Farber Cancer InstituteUniversity of Pennsylvania
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In:Breast Cancer Research: Springer Science and Business Media LLC18:11465-54111465-542X
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Friebel, Tara M.
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Mitra, Nandita
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Wan, Fei
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