Sid Yadav: Changing the landscape of VUS in BRCA2
Sid Yadav, Breast and GYN Oncologist in the Women’s Cancer Program at Mayo Clinic Comprehensive Cancer Center, shared a post on X, about a paper by him and colleagues published in Nature.
“A dream come true- published in Nature.
Using CRISPR – Cas9, we analyzed the functional effect of >6500 missense Variants of Uncertain Signficance (VUS) lBRCA2 and reclassified >90% of variants as pathogenic, likely pathogenic, benign, or likely benign. This work changes the landscape of VUS in BRCA2, providing clinically actionable results to patients to guide risk management strategies or treatment with targeted therapies such as PARP inhibitors.
I am immensely grateful to my mentor, Dr. Fergus Couch, for this opportunity, and many thanks to Conquer Cancer, the ASCO Foundation, the Mayo Clinic K12 grant, Halt Cancer at X, Mayo Clinic Comprehensive Cancer Center, Breast and Ovarian SPORE for supporting my work.
Press release from Mayo Clinic.”
“Functional evaluation and clinical classification of BRCA2 variants”
Authors: Huaizhi Huang, Chunling Hu, Jie Na, Marcy Richardson, Fergus Couch, et al.
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