Familial Genetic Cancer Risk Assessment with respect to a Silent BRCA2 mutation
Ashwini C. Bapat, Siddharth Gahlaut, Rupa Mishra, Aijaz Ul Noor, Laleh Busheri, Ruhi R. Reddy, Shahin Shaikh, Ashraf ul Mannan, Smeeta Nare, Santosh Dixit, Chaitanyanand B. Koppiker
This study reports a silent BRCA2 mutation associated with hereditary breast cancer in a male patient and his family, highlighting its potential spliceogenic effect and clinical relevance.
medRxiv · Jul 1, 2021 · PreprintGenetic & Genomic Medicine