PDAVs found in the CAPG of the 120 control samples and their occurrence in the general population. (XLSX 12 kb
Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into...
Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in t...
Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
List with all genes (exome-wide) presenting a PDAV in at least two BC patients and the number of con...
BC patients vs. controls variant types enrichment in exome- and CAGP-wide. (XLSX 10 kb
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
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...
Additional file 1: Fig. S1. Detailed distribution of age at breast cancer diagnosis and family histo...
FANCM and RECQL truncating mutations characterized by case-control analyses, following their initial...
Abstract Background In the majority of familial breast cancer (BC) families, the etiology of the dis...
Age of onset of DCIS and family history details of women with two pathogenic variants in different g...
Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into...
Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in t...
Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...
List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...
List with all genes (exome-wide) presenting a PDAV in at least two BC patients and the number of con...
BC patients vs. controls variant types enrichment in exome- and CAGP-wide. (XLSX 10 kb
Breast cancer (BC) patients considered for the study, their age at diagnosis and the number of affec...
Types and number of variants detected (exome- and CAGP-wide) before and after variant filtration in ...
Sample preparation, sequencing, analysis and variant validation workflow. (TIF 2207 kb
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...
Additional file 1: Fig. S1. Detailed distribution of age at breast cancer diagnosis and family histo...
FANCM and RECQL truncating mutations characterized by case-control analyses, following their initial...
Abstract Background In the majority of familial breast cancer (BC) families, the etiology of the dis...
Age of onset of DCIS and family history details of women with two pathogenic variants in different g...
Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into...
Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in t...
Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...