BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Author:

Burke Leslie J.1ORCID,Sevcik Jan12,Gambino Gaetana13,Tudini Emma14,Mucaki Eliseos J.5,Shirley Ben C.6,Whiley Phillip14,Parsons Michael T.4,De Leeneer Kim7,Gutiérrez-Enríquez Sara8,Santamariña Marta9,Caputo Sandrine M.10,Santana dos Santos Elizabeth101112ORCID,Soukupova Jana2,Janatova Marketa2,Zemankova Petra2,Lhotova Klara2,Stolarova Lenka2,Borecka Mariana2,Moles-Fernández Alejandro8,Manoukian Siranoush13,Bonanni Bernardo14,Edwards Stacey L.4,Blok Marinus J.15,van Overeem Hansen Thomas16,Rossing Maria16,Diez Orland817,Vega Ana9,Claes Kathleen B.M.7ORCID,Goldgar David E.18,Rouleau Etienne19,Radice Paolo20,Peterlongo Paolo21,Rogan Peter K.56,Caligo Maria3,Spurdle Amanda B.4ORCID,Brown Melissa A.1ORCID,

Affiliation:

1. School of Chemistry and Molecular Biosciences; University of Queensland; Brisbane Australia

2. Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine; Charles University; Prague Czech Republic

3. Section of Molecular Genetics; Department of Laboratory Medicine; University Hospital of Pisa; Pisa Italy

4. Department of Genetics and Computational Biology; QIMR Berghofer Medical Research Institute; Brisbane Australia

5. University of Western Ontario, Department of Biochemistry; Schulich School of Medicine and Dentistry; London Ontario Canada

6. CytoGnomix Inc.; London Ontario Canada

7. Center for Medical Genetics; Ghent University Hospital; and Cancer Research Institute Ghent (CRIG); Ghent University; Ghent Belgium

8. Oncogenetics Group; Vall d'Hebron Institute of Oncology (VHIO); Barcelona Spain

9. Fundación Pública Galega de Medicina Xenómica-SERGAS; Grupo de Medicina Xenómica-USC, CIBERER, IDIS; Santiago de Compostela Spain

10. Service de Génétique; Department de Biologie des Tumeurs; Institut Curie; Paris France

11. Department of oncology; Center for Translational Oncology; Cancer Institute of the State of São Paulo - ICESP; São Paulo Brazil

12. A.C.Camargo Cancer Center; São Paulo Brazil

13. Unit of Medical Genetics; Department of Medical Oncology and Hematology; Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT); Milan Italy

14. Division of Cancer Prevention and Genetics; Istituto Europeo di Oncologia; Milan Italy

15. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht The Netherlands

16. Center for Genomic Medicine; Copenhagen University Hospital, Rigshospitalet; Copenhagen Denmark

17. Area of Clinical and Molecular Genetics; University Hospital Vall d'Hebron (UHVH); Barcelona Spain

18. Huntsman Cancer Institute; University of Utah; Salt Lake City Utah

19. Gustave Roussy; Villejuif France

20. Unit of Molecular Bases of Genetic Risk and Genetic Testing; Department of Research; Fondazione IRCCS Istituto Nazionale dei Tumori di Milano; Milan Italy

21. IFOM; Fondazione Istituto FIRC di Oncologia Molecolare; Milan Italy

Funder

National Health and Medical Research Council

Cancer Council Queensland

National Cancer Institute

Fondazione Pisa

Miguel Servet Progam

CIBERER

Natural Sciences and Engineering Research Council of Canada

Associazione Italiana per la Ricerca sul Cancro

Canada Research Chairs

Region Hovedstaden

Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada

Canadian Foundation for Innovation

European Regional Development Fund

Instituto de Salud Carlos III

Ministerstvo Zdravotnictví Ceské Republiky

Canadian Breast Cancer Foundation

Universiteit Gent

Fundación Mutua Madrileña

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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