Additional file 3 of Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Table S2. The table lists previous studies investigating the performance of Align-GVGD, SIFT, MutationTaster or PolyPhen-2, the characteristics of the data sets utilized, and the observed values. (PDF 79 kb

Additional file 1 of Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functional impact and number of families affected within the cohort of patients from the German Consortium of Hereditary Breast and Ovarian Cancer (as of September 2016). (XLSX 28 kb

Additional file 1: Table S1. of BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for BRCA1 and BRCA2 germline testing. Table S2. Heterozygous protein-truncating mutations identified in the BRIP1 gene. Figure S1. Characterization of the c.507G > A variant within the BRIP1 gene (rs876660937) on transcript level. Table S3. Genotypes and phenotypes of heterozygous BRIP1 mutation carriers identified within the BC/OC index patient cohorts. Table S4. Potentially damaging missense variants identified in the BRIP1 gene. (PDF 215 kb