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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:Nat Commun
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2019
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
https://ncbi.nlm.nih.gov/pubmed/31757951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-13194-2
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla