Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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Fältnamn	Indikatorer	Metadata
000		11074naa a2201585 4500
001		oai:lup.lub.lu.se:e9fbd2af-125e-425d-84cf-fbd3c4ea8799
003		SwePub
008		161229s2016 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/e9fbd2af-125e-425d-84cf-fbd3c4ea87992 URI
024	7	a https://doi.org/10.1186/s13058-016-0768-32 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Rebbeck, Timothy R.u Dana-Farber Cancer Institute4 aut
245	1 0	a Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
264		c 2016-11-11
264	1	b Springer Science and Business Media LLC,c 2016
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a BRCA1
653		a BRCA2
653		a Hereditary breast and ovarian cancer
653		a Transheterozygosity
700	1	a Friebel, Tara M.u Dana-Farber Cancer Institute4 aut
700	1	a Mitra, Nanditau University of Pennsylvania4 aut
700	1	a Wan, Feiu Kaiser Permanente Research Institute4 aut
700	1	a Chen, Stephanieu University of Southern California4 aut
700	1	a Andrulis, Irene L.u University of Toronto4 aut
700	1	a Apostolou, Paraskeviu National Centre for Scientific Research Demokritos4 aut
700	1	a Arnold, Norbertu University Medical Center Schleswig-Holstein4 aut
700	1	a Arun, Banu K.u University of Texas4 aut
700	1	a Barrowdale, Danielu QIMR Berghofer Medical Research Institute4 aut
700	1	a Benitez, Javieru Spanish National Cancer Research Center (CNIO)4 aut
700	1	a Berger, Raananu Sheba Medical Center4 aut
700	1	a Berthet, Pascalineu Centre François Baclesse4 aut
700	1	a Borg, Åkeu Lund 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 Hospital4 aut0 (Swepub:lu)onk-abo
700	1	a Buys, Saundra S.u Huntsman Cancer Institute4 aut
700	1	a Caldes, Trinidadu Hospital Clinico San Carlos de Madrid4 aut
700	1	a Carter, Jonathanu Royal Prince Alfred Hospital4 aut
700	1	a Chiquette, Jocelyneu Hôpital du Saint-Sacrement4 aut
700	1	a Claes, Kathleen B Mu Ghent University Hospital4 aut
700	1	a Couch, Fergus J.u Mayo Clinic Minnesota4 aut
700	1	a Cybulski, Cezaryu Pomeranian Medical University4 aut
700	1	a Daly, Mary B.u Fox Chase Cancer Center4 aut
700	1	a de la Hoya, Miguelu Hospital Clinico San Carlos de Madrid4 aut
700	1	a Diez, Orlandu Vall d'Hebron University Hospital4 aut
700	1	a Domchek, Susan M.u Cochin Hospital4 aut
700	1	a Nathanson, Katherine L.u Cochin Hospital4 aut
700	1	a Durda, Katarzynau Pomeranian Medical University4 aut
700	1	a Ellis, Steveu University of Cambridge4 aut
700	1	a Evans, D. Garethu Manchester University NHS Foundation Trust,University of Manchester4 aut
700	1	a Foretova, Lenkau Masaryk Memorial Cancer Institute4 aut
700	1	a Friedman, Eitanu Tel-Aviv University4 aut
700	1	a Frost, Debrau University of Cambridge4 aut
700	1	a Ganz, Patricia A.u Jonsson Comprehensive Cancer Center4 aut
700	1	a Garber, Judyu Dana-Farber Cancer Institute4 aut
700	1	a Glendon, Gordu Mount Sinai Hospital of University of Toronto4 aut
700	1	a Godwin, Andrew K.u University of Kansas Medical Center4 aut
700	1	a Greene, Mark H.u National Cancer Institute, USA4 aut
700	1	a Gronwald, Jaceku Pomeranian Medical University4 aut
700	1	a Hahnen, Ericu University Hospital of Cologne4 aut
700	1	a Hallberg, Emilyu Mayo Clinic Scottsdale-Phoenix, Arizona4 aut
700	1	a Hamann, Uteu German Cancer Research Centre4 aut
700	1	a Hansen, Thomas V Ou Copenhagen University Hospital4 aut
700	1	a Imyanitov, Evgeny N.u N. N. Petrov Institute of Oncology4 aut
700	1	a Isaacs, Claudineu Lombardi Comprehensive Cancer Center4 aut
700	1	a Jakubowska, Annau Pomeranian Medical University4 aut
700	1	a Janavicius, Ramunasu State Research Institute Centre for Innovative Medicine4 aut
700	1	a Jaworska-Bieniek, Katarzynau Pomeranian Medical University4 aut
700	1	a John, Esther M.u Cancer Prevention Institute of California4 aut
700	1	a Karlan, Beth Y.u Cedars-Sinai Medical Center4 aut
700	1	a Kaufman, Bellau Sheba Medical Center4 aut
700	1	a Kwong, Avau University of Hong Kong4 aut
700	1	a Laitman, Yaelu Tel-Aviv University4 aut
700	1	a Lasset, Christineu Centre Léon Bérard4 aut
700	1	a Lazaro, Conxiu Bellvitge Biomedical Research Institute4 aut
700	1	a Lester, Jennyu Cedars-Sinai Medical Center4 aut
700	1	a Loman, Niklasu Lund 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 Hospital4 aut0 (Swepub:lu)onk-nlo
700	1	a Lubinski, Janu Pomeranian Medical University4 aut
700	1	a Manoukian, Siranoushu Istituto Nazionale dei Tumori4 aut
700	1	a Mitchell, Gillianu University of Melbourne4 aut
700	1	a Montagna, Marcou Veneto Institute of Oncology4 aut
700	1	a Neuhausen, Susan L.u City of Hope National Medical Center4 aut
700	1	a Nevanlinna, Heliu University of Helsinki4 aut
700	1	a Niederacher, Dieteru University Hospital of Düsseldorf4 aut
700	1	a Nussbaum, Robert L.4 aut
700	1	a Offit, Kennethu Memorial Sloan-Kettering Cancer Center4 aut
700	1	a Olah, Edithu National Institute of Oncology, Budapest4 aut
700	1	a Olopade, Olufunmilayo I.4 aut
700	1	a Park, Sue Kyungu Seoul National University4 aut
700	1	a Piedmonte, Marionu Roswell Park Cancer Institute4 aut
700	1	a Radice, Paolou Istituto Nazionale dei Tumori4 aut
700	1	a Rappaport-Fuerhauser, Christineu Medical University of Vienna4 aut
700	1	a Rookus, Matti A.u Netherlands Cancer Institute4 aut
700	1	a Seynaeve, Carolineu Erasmus University Medical Center4 aut
700	1	a Simard, Jacquesu Laval University4 aut
700	1	a Singer, Christian F.u Medical University of Vienna4 aut
700	1	a Soucy, Pennyu Laval University4 aut
700	1	a Southey, Melissau University of Melbourne4 aut
700	1	a Stoppa-Lyonnet, Dominiqueu Curie Institute, Paris4 aut
700	1	a Sukiennicki, Grzegorzu Pomeranian Medical University4 aut
700	1	a Szabo, Csilla I.u National Human Genome Research Institute4 aut
700	1	a Tancredi, Mariellau University Hospital of Pisa4 aut
700	1	a Teixeira, Manuel R.u Instituto Português de Oncologia do Porto Francisco Gentil (IPO)4 aut
700	1	a Teo, Soo Hwangu University of Malaya4 aut
700	1	a Terry, Mary Bethu Columbia University4 aut
700	1	a Thomassen, Madsu Odense University Hospital4 aut
700	1	a Tihomirova, Laimau Latvian Biomedical Research and Study Centre4 aut
700	1	a Tischkowitz, Marcu McGill University4 aut
700	1	a Toland, Amanda Ewartu Ohio State University4 aut
700	1	a Toloczko-Grabarek, Aleksandrau Pomeranian Medical University4 aut
700	1	a Tung, Nadineu Beth Israel Deaconess Medical Center4 aut
700	1	a van Rensburg, Elizabeth J.u University of Pretoria4 aut
700	1	a Villano, Danylou Memorial Sloan-Kettering Cancer Center4 aut
700	1	a Wang-Gohrke, Shanu University Hospital of Ulm4 aut
700	1	a Wappenschmidt, Barbarau University Hospital of Cologne4 aut
700	1	a Weitzel, Jeffrey N.u City of Hope National Medical Center4 aut
700	1	a Zidan, Jamalu Bar-Ilan University4 aut
700	1	a Zorn, Kristin K.4 aut
700	1	a McGuffog, Lesleyu University of Cambridge4 aut
700	1	a Easton, Douglasu University of Cambridge4 aut
700	1	a Chenevix-Trench, Georgiau QIMR Berghofer Medical Research Institute4 aut
700	1	a Antoniou, Antonis C.u University of Cambridge4 aut
700	1	a Ramus, Susan J.u University of New South Wales4 aut
710	2	a Dana-Farber Cancer Instituteb University of Pennsylvania4 org
773	0	t Breast Cancer Researchd : Springer Science and Business Media LLCg 18:1q 18:1x 1465-5411x 1465-542X
856	4	u http://dx.doi.org/10.1186/s13058-016-0768-3x freey FULLTEXT
856	4	u https://doi.org/10.1186/s13058-016-0768-3
856	4 8	u https://lup.lub.lu.se/record/e9fbd2af-125e-425d-84cf-fbd3c4ea8799
856	4 8	u https://doi.org/10.1186/s13058-016-0768-3

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