BRCA2 and breast carcinoma: We analysed the effects on TIMM44 splicing, considering that in other forms of cancer, for example, breast cancer owing to BRCA1 and BRCA2 mutations (Liu et al, 2001; Fackenthal et al, 2002), abnormal splicing owing to the presence of variants altering exonic enhancer binding sites for different SR factors can account for a significant percentage of cases.