BRCA2 and cancer: Although germline variants that introduce PTCs in transcripts from high-risk cancer susceptibility genes tend to be considered as deleterious because of predicted loss of function of the mutant allele, there are exceptions to the rule; namely, several lines of evidence indicate that naturally occurring and variant-related alternative splicing events in BRCA1 and BRCA2 transcripts can encode protein isoforms with residual activity (Mesman et al, 2020).