Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Rick A. C. M. Boonen; Amélie Rodrigue; Chantal Stoepker; Wouter W. Wiegant; Bas Vroling; Milan Sharma; Magdalena B. Rother; Nandi Celosse; Maaike P. G. Vreeswijk; Fergus Couch; Jacques Simard; Peter Devilee; Jean-Yves Masson; Haico van Attikum

doi:10.1038/s41467-019-13194-2

Nature Communications (Nov 2019)

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Rick A. C. M. Boonen,
Amélie Rodrigue,
Chantal Stoepker,
Wouter W. Wiegant,
Bas Vroling,
Milan Sharma,
Magdalena B. Rother,
Nandi Celosse,
Maaike P. G. Vreeswijk,
Fergus Couch,
Jacques Simard,
Peter Devilee,
Jean-Yves Masson,
Haico van Attikum

Affiliations

Rick A. C. M. Boonen: Department of Human Genetics, Leiden University Medical Center
Amélie Rodrigue: CHU de Québec-Université Laval Research Center, Oncology Division
Chantal Stoepker: Department of Human Genetics, Leiden University Medical Center
Wouter W. Wiegant: Department of Human Genetics, Leiden University Medical Center
Bas Vroling: Bio-Prodict
Milan Sharma: Department of Human Genetics, Leiden University Medical Center
Magdalena B. Rother: Department of Human Genetics, Leiden University Medical Center
Nandi Celosse: Department of Human Genetics, Leiden University Medical Center
Maaike P. G. Vreeswijk: Department of Human Genetics, Leiden University Medical Center
Fergus Couch: Department of Laboratory Medicine and Pathology, Mayo Clinic
Jacques Simard: CHU de Québec-Université Laval Research Center, Oncology Division
Peter Devilee: Department of Human Genetics, Leiden University Medical Center
Jean-Yves Masson: CHU de Québec-Université Laval Research Center, Oncology Division
Haico van Attikum: Department of Human Genetics, Leiden University Medical Center

DOI: https://doi.org/10.1038/s41467-019-13194-2
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 15

Abstract

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PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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