Article
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Nature communications - 22 Nov 2019
Boonen Rick A C M, Rodrigue Amélie, Stoepker Chantal, Wiegant Wouter W, Vroling Bas, Sharma Milan, Rother Magdalena B, Celosse Nandi, Vreeswijk Maaike P G, Couch Fergus, Simard Jacques, Devilee Peter, Masson Jean-Yves, van Attikum Haico
Abstract excerpt
Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer. While truncating variants in PALB2 are known to increase cancer risk, the interpretation of missense variants of uncertain significance (VUS) is in its infancy. Here we describe the development of a relatively fast and easy cDNA-based system for the semi...
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