Частота и спектр наследственных мутаций в гене TP53 в обширном исследовании российских пациенток с раком молочной железы

Introduction. Breast cancer is the most common tumor localization in heritable TP53-related syndrome (hTP53rc), previously called «Li-Fraumeni syndrome». This characterized by occurrence of a hereditary mutation TP53 gene. We wanted to demonstrate relatively high incidence hTP53rc structure breast tumors, as well present correct algorithm for diagnosis TP53-associated Russian population. Aim. To study and spectrum mutations gene patients. Materials methods. studied 1726 samples from patients using next generation sequencing (NGS) detect TP53, BRCA1/2 genes. The feature this was creation «enriched» sample collection ― all with any genes were excluded group special algorithm. CHEK2, NBS1, BLM 1322 additionally tested PCR population: CHEK2 del5395 (del ex9-10), c.444+1G>A [IVS2+1G>A], 1100delC, NBS1 657del5, p.Q548X [c.1642C>T]. Such technique used detecting carriership double could make it possible assess features clinical manifestations such situations case their detection. Usage an based on NGS several made exclude form final which calculated. Results. formed 10/1494, 0.67%. Conclusion. frequency population obviously insufficiently estimated. contribution should be taken into account.