Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants-Reference-Cited by-同舟云学术

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Published:2021-08-31 Issue:11 Volume:42 Page:1488-1502
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ruiz de Garibay Gorka¹^ORCID,Fernandez‐Garcia Ignacio²,Mazoyer Sylvie³^ORCID,Leme de Calais Flavia⁴,Ameri Pietro²,Vijayakumar Sangeetha²,Martinez‐Ruiz Haydeliz²,Damiola Francesca⁵,Barjhoux Laure⁵,Thomassen Mads⁶,Andersen Lars v. B.⁶,Herranz Carmen¹,Mateo Francesca¹,Palomero Luis¹,Espín Roderic¹,Gómez Antonio⁷,García Nadia¹,Jimenez Daniel¹,Bonifaci Núria¹,Extremera Ana I.¹,Castaño Julio⁸,Raya Angel⁸⁹¹⁰,Eyras Eduardo¹⁰¹¹,Puente Xose S.¹²¹³,Brunet Joan¹⁴,Lázaro Conxi¹³¹⁴,Radice Paolo¹⁵,Barnes Daniel R.¹⁶,Antoniou Antonis C.¹⁶,Spurdle Amanda B.¹⁷^ORCID,Hoya Miguel¹³¹⁸^ORCID,Baralle Diana⁴¹⁹,Barcellos‐Hoff Mary Helen²²⁰,Pujana Miquel A.¹^ORCID, ,

Affiliation:

1. ProCURE, Oncobell, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL) L'Hospitalet del Llobregat Barcelona Catalonia Spain

2. Department of Radiation Oncology New York University School of Medicine New York New York USA

3. Equipe GENDEV, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Lyon 1 Université St Etienne Lyon France

4. School of Human Development and Health, Faculty of Medicine University of Southampton Southampton UK

5. Department of Biopathology, Pathology Research Platform Centre Léon Bérard Lyon France

6. Department of Clinical Genetics Odense University Hospital Odense C Denmark

7. Gene Regulation, Stem Cells and Cancer Center for Genomic Regulation (CRG) Barcelona Catalonia Spain

8. Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P‐CMRC) L'Hospitalet del Llobregat Barcelona Spain

9. Centre for Networked Biomedical Research on Bioengineering Biomaterials and Nanomedicine (CIBER‐BBN) Madrid Spain

10. Catalan Institution for Research and Advanced Studies Barcelona Spain

11. Department of Genome Sciences, The John Curtin School of Medical Research, EMBL Australia Partner Laboratory Network Australian National University Canberra Australia

12. Department of Biochemistry and Molecular Biology, University Institute of Oncology University of Oviedo Oviedo Spain

13. Biomedical Research Centre in Cancer (CIBERONC) Instituto Salud Carlos III Madrid Spain

14. Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell, Bellvitge Institute for Biomedical Research (IDIBELL) L'Hospitalet del Llobregat, and Girona Biomedical Research Institute (IDIBGI) Girona Catalonia Spain

15. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Research Department Fondazione IRCCS Istituto Nazionale dei Tumori Milan Italy

16. Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology University of Cambridge Cambridge UK

17. Genetics and Computational Division QIMR Berghofer Medical Research Institute Herston Queensland Australia

18. Molecular Oncology Laboratory, Hospital Clínico San Carlos Health Research Institute of the Hospital Clínico San Carlos (IdISSC) Madrid Spain

19. Wessex Clinical Genetics Service Southampton University Hospital NHS Trust Southampton UK

20. Department of Radiation Oncology, School of Medicine University of California San Francisco San Francisco California USA

Funder

European Commission

Instituto de Salud Carlos III

National Health and Medical Research Council

U.S. Department of Defense

Associazione Italiana per la Ricerca sul Cancro

Novartis Pharma

Health Services and Delivery Research Programme

Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya

Ministerio de Economía y Competitividad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24276

Reference59 articles.

1. Unclassified variants identified inBRCA1exon 11: Consequences on splicing

2. RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

3. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

4. Retroviral transduction of splice variant Brca1-Δ11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia

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