Genetic & Genomic MedicinemedRxivPreprint
Familial Genetic Cancer Risk Assessment with respect to a Silent BRCA2 mutation
Ashwini C. Bapat, Siddharth Gahlaut, Rupa Mishra…·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.
DOI 10.1101/2021.07.01.21258680