Journal of Cancer Genetics and Biomarkers
Open Access
Functional, Structural and Contextual Analysis of a Variant of Uncertain Clinical Significance in BRCA1: c.5434C->G (p. Pro1812Ala)
Jan 2017 DOI 10.14302/issn.2572-3030.jcgb-16-1307
Rafael MoralesCorresponding author
Interpreting variants of uncertain significance (VUS) for their effect on protein function, and therefore for the risk of developing cancer, has become a challenge in clinical practice for genetic counselling services. The present work combines structural bioinformatics and systems biology based mat…