BC patients vs. controls variant types enrichment in exome- and CAGP-wide. (XLSX 10 kb
Table S16. BRCA1/2 LOH calls using different LOH calling approaches. (XLS 51Â kb
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
Pathogenic mutations in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes (n = 96) detected in 398 p...
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
List with all genes (exome-wide) presenting a PDAV in at least two BC patients and the number of con...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
PDAVs found in the CAPG of the 120 control samples and their occurrence in the general population. (...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Splice-site variants with their corresponding HSF and MaxEnt Scores from Human Splicing Finder 3.0. ...
Additional file 4: Supplementary Table 1. Total number of potentially pathogenic variants discovered...
Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...
Figure S2. Mean sequencing read depth for (A.) the 46 solid tumor cohort. (B.) isolated mononuclear ...
Additional file 1: Fig. S1. Detailed distribution of age at breast cancer diagnosis and family histo...
Table S6. Results of the top candidate SNPs analyzed using RegulomeDB (XLSX 12 kb
Table S16. BRCA1/2 LOH calls using different LOH calling approaches. (XLS 51Â kb
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
Pathogenic mutations in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes (n = 96) detected in 398 p...
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
List with all genes (exome-wide) presenting a PDAV in at least two BC patients and the number of con...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
PDAVs found in the CAPG of the 120 control samples and their occurrence in the general population. (...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
Splice-site variants with their corresponding HSF and MaxEnt Scores from Human Splicing Finder 3.0. ...
Additional file 4: Supplementary Table 1. Total number of potentially pathogenic variants discovered...
Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...
Figure S2. Mean sequencing read depth for (A.) the 46 solid tumor cohort. (B.) isolated mononuclear ...
Additional file 1: Fig. S1. Detailed distribution of age at breast cancer diagnosis and family histo...
Table S6. Results of the top candidate SNPs analyzed using RegulomeDB (XLSX 12 kb
Table S16. BRCA1/2 LOH calls using different LOH calling approaches. (XLS 51Â kb
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
Pathogenic mutations in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes (n = 96) detected in 398 p...