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
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Background: The use of next-generation sequencing approaches in clinical diagnostics has led to a tr...
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 a...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
Pathogenic mutations in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes (n = 96) detected in 398 p...
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values f...
Supplementary Methods. Table S1. Clinical and pathological characteristics, BRCA sequencing and MLPA...
BC patients vs. controls variant types enrichment in exome- and CAGP-wide. (XLSX 10 kb
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Background: The use of next-generation sequencing approaches in clinical diagnostics has led to a tr...
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 a...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
Pathogenic mutations in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes (n = 96) detected in 398 p...
Figure S1: Distribution of the reviewed 141 BRCA1 missense variants; Figure S2: The Shapely values f...
Supplementary Methods. Table S1. Clinical and pathological characteristics, BRCA sequencing and MLPA...
BC patients vs. controls variant types enrichment in exome- and CAGP-wide. (XLSX 10 kb
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...
Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment o...