Classification of putative BRCA1 splicing mutations.

A: Variants that severely affect splicing, B: Variants having a partial effect only, and C: Variants that do not affect processing of BRCA1 pre-mRNA species in PBL.*Variants with severe impact on splicing are considered as likely pathogenic (class 4) according to the classification system proposed by Plon et al., [42], while variants with only partial effects on splicing remain of uncertain clinical significance (class 3). Variant descriptions (BIC nomenclature, HGVS nomenclature), consequences on transcript- and protein levels, family IDs, analyzed index patients (phenotypes, age at onset), family histories (phenotypes, age at onset) and ethnic backgrounds are given. Family members carrying the same BRCA1 variant are indicated (asterisk). All other listed family members were not available for analysis. Abbreviation: BC = breast cancer; OC = ovarian cancer; n.a. = not affected; bil = bilateral; ProC = prostate carcinoma; MTX = mastectomy; DCIS = Ductal carcinoma in situ.