Analysis of potentially pathogenic <i>ABRAXAS</i> in-frame deletion or rare missense substitutions.

<p>Analysis of potentially pathogenic <i>ABRAXAS</i> in-frame deletion or rare missense substitutions.</p

Distribution of p.Thr141Ile, p.Ser7Ser and p.Ser11Ser by race/ethnicity.

<p>Distribution of p.Thr141Ile, p.Ser7Ser and p.Ser11Ser by race/ethnicity.</p

p.Gly39val and p.Thr141Ile ABRAXAS mutants have defects in gamma-H2AX formation.

<p>(A) Typical DNA damage foci of ABRAXAS in shABRAXAS (shABX145) MCF7 cells complemented with ABRAXAS-HA-Flag, ABRAXAS-HA-Flag pThr141Ile, or ABRAXAS-HA-Flag pGly39Val. The anti-Flag antibody was used to monitor ABRAXAS foci formation (green), anti-gamma-H2AX (red) and the merge picture is depicted. In blue, DAPI staining. (B) Quantification of gamma-H2AX foci formation in MCF7 cells after neocarzinostatin treatment and release. P-values were obtained with a Wilcoxon’s Test with N = 100 cells from four independent experiments.</p

Stratified analyses of the common SNP rs13125836 (c. 1117G>A, p.Asp373Asn) on breast cancer risk in the BCFR.

<p>Stratified analyses of the common SNP rs13125836 (c. 1117G>A, p.Asp373Asn) on breast cancer risk in the BCFR.</p

Distribution of <i>ABRAXAS</i> rare variants (<i>i</i>.<i>e</i>. with a minor allele frequency<1% in the Exome Variant Server (EVS)) identified in the BCFR.

<p>Distribution of <i>ABRAXAS</i> rare variants (<i>i</i>.<i>e</i>. with a minor allele frequency<1% in the Exome Variant Server (EVS)) identified in the BCFR.</p

ABRAXAS multiple-sequence alignment.

<p>Substitution designations are indicated above the corresponding human reference sequence residue. Amino acid symbols are colored to represent standard Dayhoff groupings.</p

Distribution of cases and controls by study center and by ethnicity in the BCFR.

<p>Distribution of cases and controls by study center and by ethnicity in the BCFR.</p

Additional file 1: Table S1. of Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Ethics committees that granted approval for the access and use of the data for this study. Table S2. Participant counts by center and mutation. Table S3. Primers used for PCR and Sanger sequencing. Table S4. Primers used in micro-satellite analysis for loss of heterozygosity. Table S5. Micro-satellite loss of heterozygosity and sequencing analysis results. (DOC 177 kb

Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series.

<p>Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series.</p

Variants identified in the screening of the <i>RAD51B</i> gene (RefSeq NM_133509.3).

<p>Variants identified in the screening of the <i>RAD51B</i> gene (RefSeq NM_133509.3).</p