Search: (WFRF:(Imyanitov Evgeny N)) pers:(Terry Mary Beth) >
Inheritance of dele...
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
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- Rebbeck, Timothy R. (author)
- Dana-Farber Cancer Institute
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- Friebel, Tara M. (author)
- Dana-Farber Cancer Institute
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- Mitra, Nandita (author)
- University of Pennsylvania
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- Wan, Fei (author)
- Kaiser Permanente Research Institute
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- Chen, Stephanie (author)
- University of Southern California
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- Andrulis, Irene L. (author)
- University of Toronto
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- Apostolou, Paraskevi (author)
- National Centre for Scientific Research Demokritos
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- Arnold, Norbert (author)
- University Medical Center Schleswig-Holstein
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- Arun, Banu K. (author)
- University of Texas
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- Barrowdale, Daniel (author)
- QIMR Berghofer Medical Research Institute
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- Benitez, Javier (author)
- Spanish National Cancer Research Center (CNIO)
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- Berger, Raanan (author)
- Sheba Medical Center
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- Berthet, Pascaline (author)
- Centre François Baclesse
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- Borg, Åke (author)
- 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 Hospital
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- Buys, Saundra S. (author)
- Huntsman Cancer Institute
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- Caldes, Trinidad (author)
- Hospital Clinico San Carlos de Madrid
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- Carter, Jonathan (author)
- Royal Prince Alfred Hospital
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- Chiquette, Jocelyne (author)
- Hôpital du Saint-Sacrement
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- Claes, Kathleen B M (author)
- Ghent University Hospital
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- Couch, Fergus J. (author)
- Mayo Clinic Minnesota
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- Cybulski, Cezary (author)
- Pomeranian Medical University
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- Daly, Mary B. (author)
- Fox Chase Cancer Center
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- de la Hoya, Miguel (author)
- Hospital Clinico San Carlos de Madrid
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- Diez, Orland (author)
- Vall d'Hebron University Hospital
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- Domchek, Susan M. (author)
- Cochin Hospital
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- Nathanson, Katherine L. (author)
- Cochin Hospital
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- Durda, Katarzyna (author)
- Pomeranian Medical University
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- Ellis, Steve (author)
- University of Cambridge
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- Evans, D. Gareth (author)
- University of Manchester,Manchester University NHS Foundation Trust
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- Foretova, Lenka (author)
- Masaryk Memorial Cancer Institute
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- Friedman, Eitan (author)
- Tel-Aviv University
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- Frost, Debra (author)
- University of Cambridge
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- Ganz, Patricia A. (author)
- Jonsson Comprehensive Cancer Center
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- Garber, Judy (author)
- Dana-Farber Cancer Institute
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- Glendon, Gord (author)
- Mount Sinai Hospital of University of Toronto
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- Godwin, Andrew K. (author)
- University of Kansas Medical Center
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- Greene, Mark H. (author)
- National Cancer Institute, USA
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- Gronwald, Jacek (author)
- Pomeranian Medical University
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- Hahnen, Eric (author)
- University Hospital of Cologne
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- Hallberg, Emily (author)
- Mayo Clinic Scottsdale-Phoenix, Arizona
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- Hamann, Ute (author)
- German Cancer Research Centre
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- Hansen, Thomas V O (author)
- Copenhagen University Hospital
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- Imyanitov, Evgeny N. (author)
- N. N. Petrov Institute of Oncology
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- Isaacs, Claudine (author)
- Lombardi Comprehensive Cancer Center
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- Jakubowska, Anna (author)
- Pomeranian Medical University
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- Janavicius, Ramunas (author)
- State Research Institute Centre for Innovative Medicine
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- Jaworska-Bieniek, Katarzyna (author)
- Pomeranian Medical University
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- John, Esther M. (author)
- Cancer Prevention Institute of California
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- Karlan, Beth Y. (author)
- Cedars-Sinai Medical Center
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- Kaufman, Bella (author)
- Sheba Medical Center
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- Kwong, Ava (author)
- University of Hong Kong
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- Laitman, Yael (author)
- Tel-Aviv University
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- Lasset, Christine (author)
- Centre Léon Bérard
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- Lazaro, Conxi (author)
- Bellvitge Biomedical Research Institute
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- Lester, Jenny (author)
- Cedars-Sinai Medical Center
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- Loman, Niklas (author)
- 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 Hospital
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- Lubinski, Jan (author)
- Pomeranian Medical University
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- Manoukian, Siranoush (author)
- Istituto Nazionale dei Tumori
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- Mitchell, Gillian (author)
- University of Melbourne
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- Montagna, Marco (author)
- Veneto Institute of Oncology
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- Neuhausen, Susan L. (author)
- City of Hope National Medical Center
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- Nevanlinna, Heli (author)
- University of Helsinki
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- Niederacher, Dieter (author)
- University Hospital of Düsseldorf
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Nussbaum, Robert L. (author)
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- Offit, Kenneth (author)
- Memorial Sloan-Kettering Cancer Center
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- Olah, Edith (author)
- National Institute of Oncology, Budapest
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Olopade, Olufunmilayo I. (author)
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- Park, Sue Kyung (author)
- Seoul National University
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- Piedmonte, Marion (author)
- Roswell Park Cancer Institute
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- Radice, Paolo (author)
- Istituto Nazionale dei Tumori
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- Rappaport-Fuerhauser, Christine (author)
- Medical University of Vienna
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- Rookus, Matti A. (author)
- Netherlands Cancer Institute
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- Seynaeve, Caroline (author)
- Erasmus University Medical Center
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- Simard, Jacques (author)
- Laval University
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- Singer, Christian F. (author)
- Medical University of Vienna
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- Soucy, Penny (author)
- Laval University
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- Southey, Melissa (author)
- University of Melbourne
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- Stoppa-Lyonnet, Dominique (author)
- Curie Institute, Paris
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- Sukiennicki, Grzegorz (author)
- Pomeranian Medical University
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- Szabo, Csilla I. (author)
- National Human Genome Research Institute
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- Tancredi, Mariella (author)
- University Hospital of Pisa
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- Teixeira, Manuel R. (author)
- Instituto Português de Oncologia do Porto Francisco Gentil (IPO)
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- Teo, Soo Hwang (author)
- University of Malaya
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- Terry, Mary Beth (author)
- Columbia University
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- Thomassen, Mads (author)
- Odense University Hospital
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- Tihomirova, Laima (author)
- Latvian Biomedical Research and Study Centre
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- Tischkowitz, Marc (author)
- McGill University
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- Toland, Amanda Ewart (author)
- Ohio State University
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- Toloczko-Grabarek, Aleksandra (author)
- Pomeranian Medical University
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- Tung, Nadine (author)
- Beth Israel Deaconess Medical Center
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- van Rensburg, Elizabeth J. (author)
- University of Pretoria
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- Villano, Danylo (author)
- Memorial Sloan-Kettering Cancer Center
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- Wang-Gohrke, Shan (author)
- University Hospital of Ulm
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- Wappenschmidt, Barbara (author)
- University Hospital of Cologne
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- Weitzel, Jeffrey N. (author)
- City of Hope National Medical Center
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- Zidan, Jamal (author)
- Bar-Ilan University
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Zorn, Kristin K. (author)
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- McGuffog, Lesley (author)
- University of Cambridge
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- Easton, Douglas (author)
- University of Cambridge
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- Chenevix-Trench, Georgia (author)
- QIMR Berghofer Medical Research Institute
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- Antoniou, Antonis C. (author)
- University of Cambridge
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- Ramus, Susan J. (author)
- University of New South Wales
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(creator_code:org_t)
- 2016-11-11
- 2016
- English.
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In: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 18:1
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http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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Abstract
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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
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- BRCA1
- BRCA2
- Hereditary breast and ovarian cancer
- Transheterozygosity
Publication and Content Type
- art (subject category)
- ref (subject category)
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Rebbeck, Timothy ...
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Friebel, Tara M.
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Mitra, Nandita
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Wan, Fei
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Andrulis, Irene ...
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Apostolou, Paras ...
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Arnold, Norbert
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Benitez, Javier
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Berger, Raanan
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Berthet, Pascali ...
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Borg, Åke
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Buys, Saundra S.
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Caldes, Trinidad
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Carter, Jonathan
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Chiquette, Jocel ...
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Claes, Kathleen ...
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Couch, Fergus J.
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Cybulski, Cezary
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Daly, Mary B.
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de la Hoya, Migu ...
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Diez, Orland
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Domchek, Susan M ...
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Nathanson, Kathe ...
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Durda, Katarzyna
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Ellis, Steve
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Evans, D. Gareth
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Foretova, Lenka
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Friedman, Eitan
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Frost, Debra
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Ganz, Patricia A ...
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Garber, Judy
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Glendon, Gord
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Godwin, Andrew K ...
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Greene, Mark H.
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Gronwald, Jacek
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Hahnen, Eric
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Hallberg, Emily
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Hamann, Ute
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Hansen, Thomas V ...
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Imyanitov, Evgen ...
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Isaacs, Claudine
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Jakubowska, Anna
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Janavicius, Ramu ...
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Jaworska-Bieniek ...
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John, Esther M.
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Karlan, Beth Y.
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Kaufman, Bella
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Kwong, Ava
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Laitman, Yael
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Lasset, Christin ...
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Lazaro, Conxi
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Lester, Jenny
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Loman, Niklas
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Lubinski, Jan
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Manoukian, Siran ...
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Mitchell, Gillia ...
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Montagna, Marco
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Neuhausen, Susan ...
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Nevanlinna, Heli
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Niederacher, Die ...
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Nussbaum, Robert ...
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Offit, Kenneth
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Olah, Edith
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Olopade, Olufunm ...
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Park, Sue Kyung
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Piedmonte, Mario ...
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Radice, Paolo
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Rappaport-Fuerha ...
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Rookus, Matti A.
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Seynaeve, Caroli ...
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Simard, Jacques
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Singer, Christia ...
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Soucy, Penny
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Southey, Melissa
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Stoppa-Lyonnet, ...
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Sukiennicki, Grz ...
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Szabo, Csilla I.
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Tancredi, Mariel ...
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Teixeira, Manuel ...
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Teo, Soo Hwang
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Terry, Mary Beth
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Thomassen, Mads
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Tihomirova, Laim ...
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Tischkowitz, Mar ...
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Toland, Amanda E ...
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Toloczko-Grabare ...
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Tung, Nadine
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van Rensburg, El ...
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Villano, Danylo
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Wang-Gohrke, Sha ...
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Wappenschmidt, B ...
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Weitzel, Jeffrey ...
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Zidan, Jamal
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Zorn, Kristin K.
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McGuffog, Lesley
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Easton, Douglas
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Chenevix-Trench, ...
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Antoniou, Antoni ...
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Ramus, Susan J.
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