Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants-Reference-Cited by-同舟云学术

Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants

Published:2021-12-28 Issue:3 Volume:256 Page:321-334
ISSN:0022-3417
Container-title:The Journal of Pathology
language:en
Short-container-title:The Journal of Pathology

Author:

Valenzuela‐Palomo Alberto¹,Bueno‐Martínez Elena¹,Sanoguera‐Miralles Lara¹,Lorca Víctor²,Fraile‐Bethencourt Eugenia¹³,Esteban‐Sánchez Ada²,Gómez‐Barrero Susana⁴,Carvalho Sara⁵,Allen Jamie⁵,García‐Álvarez Alicia¹,Pérez‐Segura Pedro²,Dorling Leila⁵,Easton Douglas F⁵,Devilee Peter⁶,Vreeswijk Maaike PG⁶,Hoya Miguel²^ORCID,Velasco Eladio A¹^ORCID

Affiliation:

1. Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular Consejo Superior de Investigaciones Científicas (CSIC‐UVa) Valladolid Spain

2. Molecular Oncology Laboratory, Hospital Clínico San Carlos IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) Madrid Spain

3. Knight Cancer Research Building Portland OR USA

4. VISAVET Health Surveillance Centre Complutense University Madrid Spain

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

6. Department of Human Genetics Leiden University Medical Center Leiden The Netherlands

Funder

Consejería de Educación, Junta de Castilla y León

European Commission

Fundación Científica Asociación Española Contra el Cáncer

Instituto de Salud Carlos III

Publisher

Wiley

Subject