Development and validation of molecular methodologies to assess PALB2 expression in sporadic breast cancer.

摘要: Abstract Objectives Recent reports have included PALB2 (Partner and localizer of BRCA2 ) in the growing list hereditary cancer genes. mutations confer a moderate breast risk heterozygotes Fanconi anemia biallelic mutation carriers. protein co-localizes with BRCA1 nuclear structures enables error-free homologous recombination repair double-stranded DNA breaks. This important contribution could be severely diminished if affected by epigenetic mechanisms such as promoter CpG island methylation. The aim our study was to develop molecular methodologies order assess accurately expression tissues. Design methods RNA were extracted from 91 sporadic fresh-frozen tissues known histopathological data. subjected sodium bisulfite conversion reaction analyzed pyrosequencing. converted cDNA newly developed validated RT-qPCR assay based on hydrolysis probe (TaqMan) Light Cycler. Results not methylated any samples tested. 87 out (95.6%) primary tumors positive for expression, checked at mRNA level. When levels compared data (tumor size, grade, lymph node involvement, metastasis, hormone receptors HER2 overexpression), no significant statistical correlation found. Conclusions methylation is an unlike mechanism transcriptional regulation. does seem promising prognostic biomarker cancer.