| Summary: | <p>Abstract</p> <p>Background</p> <p>Oncogene amplification and overexpression occur in tumor cells. Amplification status may provide diagnostic and prognostic information and may lead to new treatment strategies. Chromosomal regions 8p12, 8q24, 11q13, 17q12 and 20q13 are recurrently amplified in breast cancers.</p> <p>Methods</p> <p>To assess the frequencies and clinical impact of amplifications, we analyzed 547 invasive breast tumors organized in a tissue microarray (TMA) by fluorescence in situ hybridization (FISH) and calculated correlations with histoclinical features and prognosis. BAC probes were designed for: (i) two 8p12 subregions centered on <it>RAB11FIP1 </it>and <it>FGFR1 </it>loci, respectively; (ii) 11q13 region centered on <it>CCND1</it>; (iii) 12p13 region spanning <it>NOL1</it>; and (iv) three 20q13 subregions centered on <it>MYBL2, ZNF217 </it>and <it>AURKA</it>, respectively. Regions 8q24 and 17q12 were analyzed with <it>MYC </it>and <it>ERBB2 </it>commercial probes, respectively.</p> <p>Results</p> <p>We observed amplification of 8p12 (amplified at <it>RAB11FIP1 </it>and/or <it>FGFR1</it>) in 22.8%, 8q24 in 6.1%, 11q13 in 19.6%, 12p13 in 4.1%, 17q12 in 9.9%, 20q13<sup>Z </sup>(amplified at <it>ZNF217 </it>only) in 9.9%, and 20q13<sup>Co </sup>(co-amplification of two or three 20q13 loci) in 8.5% of cases. The 8q24, 12p13, and 17q12 amplifications were correlated with high grade. The most frequent single amplifications were 8p12 (9.8%), 8q24 (3.3%) and 12p13 (3.3%), 20q13<sup>Z </sup>and 20q13<sup>Co </sup>(1.6%) regions. The 17q12 and 11q13 regions were never found amplified alone. The most frequent co-amplification was 8p12/11q13. Amplifications of 8p12 and 17q12 were associated with poor outcome. Amplification of 12p13 was associated with basal molecular subtype.</p> <p>Conclusion</p> <p>Our results establish the frequencies, prognostic impacts and subtype associations of various amplifications and co-amplifications in breast cancers.</p>
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