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

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

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

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