Proportion of rare CNVs in breast cancer cases and controls.

<p>BC = breast cancer.</p>a<p>Observed only in cancer cases, or only in controls.</p>b<p>The genomic loci has annotated genes.</p>c<p>Gene disruptions include rare CNVs having breakpoints within the genes or promoter regions, and rare CNVs which delete the involved genes entirely.</p

Indication of dysfunction of <i>TP53</i> and β-estradiol centered network in the studied breast cancer cases.

<p>IPA was used to identify the connection between the genes disrupted in all cases (both familial and the cohort consisting of young breast cancer patients). The analysis identified two networks with (A) <i>TP53</i>, β-estradiol and <i>CTNNB1</i> (in green) occupying the central positions, and (B) β-estradiol (in green) occupying the central position. Genes disrupted in breast cancer cases are coloured with red. Solid lines indicate direct molecular interaction and dashed lines indicate indirect molecular interaction.</p

Molecular and cellular functions, and diseases and disorders overrepresented among the genes disrupted in familial breast cancer cases.

<p>No particular functions were overrepresented among controls.</p>a<p>Statistically significant false discovery rate (FDR) adjusted <i>P</i>-values; correction for multiple testing was done using the Benjamini-Hochberg method.</p