Ispol'zovanie «standartnyh» diagnosticheskih panelej, dayushchih vozmozhnost' opredelyat' lish' neskol'ko naibolee rasprostranennyh v populyacii mutacij v genah BRCA1 i BRCA2, mozhet privodit' k poyavleniyu lozhnootricatel'nyh rezul'tatov iz-za nalichiya drugih povrezhdenij v kodiruyushchih oblastyah dannyh genov, chto, v svoyu ochered', mozhet privesti k neadekvatnomu vyboru taktiki lecheniya u bol'nyh rakom molochnoj zhelezy (RMZH). Cel'yu raboty bylo vyyavit' osobennosti BRCA-associirovannogo raka molochnoj zhelezy v rossijskoj populyacii. V issledovanie voshli pacienty s diagnozom RMZH (n = 4440). Na pervom etape metodom PCR v real'nom vremeni provedeno skriningovoe issledovanie vsekh pacientov na nalichie vos'mi naibolee rasprostranennyh mutacij v genah BRCA1 i BRCA2. Dalee pri nalichii u pacientov klinicheskih priznakov nasledstvennogo zabolevaniya (KPNZ) i otsutstvii rasprostranennyh mutacij (n = 290) provodili issledovanie vsej kodiruyushchej chasti genov BRCA1 i BRCA2 metodom sekvenirovaniya novogo pokoleniya (NGS). V 169 sluchayah (3,8%) byli vyyavleny «standartnye» mutacii v genah BRCA1 i BRCA2. V gruppe pacientov s KPNZ chastota vyyavlennyh «standartnyh» mutacij sostavila 15,4%. Metodom NGS u 40 iz 290 bol'nyh RMZH (13,8%) byli obnaruzheny 33 redkie patogennye mutacii v genah BRCA1 i BRCA2. Sdelan vyvod, chto BRCA-associirovannyj RMZH v rossijskoj populyacii harakterizuetsya shirokim spektrom patogennyh variantov, kotoryj ne ogranichen mutaciyami, vklyuchennymi v standartnye kliniko-diagnosticheskie paneli. Analiz vsej kodiruyushchej chasti genov BRCA1 i BRCA2 pozvolyaet povysit' effektivnost' vyyavleniya germinal'nyh mutacij u bol'nyh RMZH po krajnej mere v 2 raza.
Новосибирский государственный университет, Россия carcinogenesis anD ViolaTion oF collagen Kudinova e. g. novosibirsk state university, russia
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