BRCA1 and breast cancer: tBRCA* is considered deleterious when it leads to premature stop codons (PSCs) anywhere in BRCA1/2 coding regions (with the exception of the BRCA2 PSC at position K3326 and 3′ downstream), splice site alterations (defined as mutations at intron/exon junctions, ±2 bp from exon starts/ends) or deleterious missense alterations (according to the curated list based on the Breast Cancer Information Core database).