Siddhartha Yadav, Associate Professor of Oncology and Consultant Medical Oncologist at the Mayo Clinic, shared a post on LinkedIn:
“Tackling the VUS problem in germline genetic testing.
This study evaluated 84% of all possible missense variants in 11 out of 13 PALB2 exons using site-saturation functional screens with PARP inhibitor sensitivity as a readout for HR. 6% were identified as non-functional or deleterious.
MAVE studies like this one are changing the landscape of VUS classification. The challenge remains in the reliability of results (validation studies needed) and translating these findings to clinical practice.”
Title: Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk
Authors: Rick A.C.M. Boonen, Sabine C. Knaup, Roberta Menafra, Merel E. Braspenning, Magdalena B. Rother, Petra Kleiblova, Marketa Janatova, Dina Ruano, Chunling Hu, Huaizhi Huang, Vijai Joseph, Michael Conry, Stephan Heijl, Bas Vroling, Jelle J. Goeman, Matthew Varga, CZECANCA consortium, Marcy E. Richardson, Susan L. Kloet, Fergus J. Couch, Maaike P. G. Vreeswijk and Haico van Attikum
Read the full Article
More posts featuring Siddhartha Yadav.