Thorough in silico and in vitro cDNA analysis of 21 putativeBRCA1andBRCA2splice variants and a complex tandem duplication inBRCA2allowing the identification of activated cryptic splice donor sites inBRCA2exon 11-Reference-Cited by-同舟云学术

Thorough in silico and in vitro cDNA analysis of 21 putativeBRCA1andBRCA2splice variants and a complex tandem duplication inBRCA2allowing the identification of activated cryptic splice donor sites inBRCA2exon 11

Published:2018-01-22 Issue:4 Volume:39 Page:515-526
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baert Annelot¹²,Machackova Eva³,Coene Ilse²,Cremin Carol⁴,Turner Kristin⁴,Portigal-Todd Cheryl⁴,Asrat Marie Jill⁴,Nuk Jennifer⁴,Mindlin Allison⁴,Young Sean⁴⁵,MacMillan Andree⁶,Van Maerken Tom²,Trbusek Martin⁷,McKinnon Wendy⁸,Wood Marie E.⁸,Foulkes William D.⁹^ORCID,Santamariña Marta¹⁰,de la Hoya Miguel¹¹,Foretova Lenka³,Poppe Bruce²,Vral Anne¹,Rosseel Toon²,De Leeneer Kim²,Vega Ana¹⁰,Claes Kathleen B. M.²^ORCID

Affiliation:

1. Department of Basic Medical Sciences; Ghent University; Ghent Belgium

2. Center for Medical Genetics; Ghent University Hospital; Ghent Belgium

3. Department of Cancer Epidemiology and Genetics; Masaryk Memorial Cancer Institute; Brno Czech Republic

4. BC Cancer Agency; Vancouver British Columbia Canada

5. Cancer Genetics and Genomics Laboratory; Department of Pathology and Laboratory Medicine; BC Cancer Agency; Vancouver British Columbia Canada

6. Provincial Medical Genetics Program; Eastern Health; St. John's Newfoundland and Labrador Canada

7. Department of Internal Medicine - Hematology and Oncology; University Hospital Brno; Brno Czech Republic

8. Familial Cancer Program; University of Vermont Medical Center; Burlington Vermont United States

9. Cancer Research Program; Research Institute of the McGill University Health Centre; McGill University; Montreal Quebec Canada

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

11. Molecular Oncology Laboratory CIBERONC; Hospital Clinico San Carlos; IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos); Madrid Spain

Funder

Stichting Tegen Kanker

Spanish Ministry of Economy and Innovation

European Regional Development FEDER Funds

CIBERER

Ministry of Education, Youth and Science

Horizon 2020

Instituto de Salud Carlos III

Canadian Institute of Health Research Foundation

Publisher

Wiley

Subject