Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the possible relationship between defects in the FA/BRCA pathway of genomic stability and potential pathogenesis of T and B cell lymphoma.</p><p><b>METHODS</b>Nineteen cell lines derived from diverse subtypes of lymphoma for possible FA pathway defects were screened.</p><p><b>RESULTS</b>No defect in FANCD2 ubiquitination was observed. However, the FANCN protein was absent in cell lines HT and Sudhl4. This absence was correlated with enhanced MMC-induced G2 arrest, growth inhibition and high chromosomal breakage rate in both cell lines. In addition, in exon-5a of FANCN gene, a mutation of c.1769 C>T, p. A590V was found in cell line HT, but not in cell line Sudhl4.</p><p><b>CONCLUSION</b>This mutation may be the reason causing the absence of the FANCN protein expression or making the protein unstable and losing its function.</p>