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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
https://www.ncbi.nlm.nih.gov/pubmed/31757951
http://dx.doi.org/10.1038/s41467-019-13194-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
https://www.ncbi.nlm.nih.gov/pubmed/31757951
http://dx.doi.org/10.1038/s41467-019-13194-2

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