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METHOD FOR DETERMINING GENETIC MARKERS FOR ASSESSING POLYGENIC RISK OF BREAST CANCER (HORMONE-NEGATIVE AND HORMONE-POSITIVE SUBTYPES)

机译:确定用于评估乳腺癌的多基因风险的遗传标记的方法(激素阴性和激素阳性亚型)

摘要

FIELD: medical biotechnology.;SUBSTANCE: invention relates to the field of medical biotechnology and concerns a method for determining genetic markers of polygenic risk of breast cancer (hereinafter – BC). A method for analyzing 38 genetic markers for assessing the polygenic risk of developing hormone-negative and hormone-positive subtypes of BC is proposed: 11q13.1 (rs3903072), 12q24 (rs12920U), 19q13.31 (rs3760982), 2q14.2 (rs4849887), 2q35 (rs16857609, rs13387042), 6q14.1 (rs17529111), 8p21.1 (rs9693444), 8q21.11 (rs6472903), 8q24.21 (rs11780156), BRCA2 (rs11571833), CASP8 (rs1045485), CCND1 (rs78540526), CDCA7 (rs1550623), CDKN2A/B (rs1011970), CHEK2 I157T (rs17879961), DNAJC1 (rs11814448), EBF1 (rs1432679), ESR1 (rs12662670, rs2046210), FGFR2 (rs2981579), FOXQ1 (rs11242675), FTO (rs17817449), HNF4G (rs2943559), LSP1 (rs3817198), MKL1 (rs6001930), NTN4 (rs17356907), PDE4D (rs1353747), PEX14 (rs616488), PTHLH (rs10771399), RAB3C (rs10472076), RAD51L1 (rs999737), SSBP4 (rs4808801), TCF7L2 (rs7904519), TERT (rs2736108, rs7726159), TOX3 (rs3803662), ZNF365 (rs10995190). ;EFFECT: invention allows simultaneous determination of genotypes at selected loci using multiplex PCR and subsequent hybridization with an oligonucleotide biological microchip (biochip).;2 cl, 2 dwg, 2 tbl, 3 ex
机译:现场:医学生物技术。物质:发明涉及医学生物技术领域,涉及确定乳腺癌的多基因风险的遗传标记的方法(下文中 - BC)。提出了一种分析38种遗传标记的方法,用于评估发育中发育激素阴性和激素阳性亚型的多基因风险的遗传标记:11Q13.1(RS3903072),12季度(RS12920U),19Q13.31(RS3760982),2Q14.2( RS4849887),2Q35(RS16857609,RS13387042),6Q14.1(RS17529111),8P21.1(RS9693444),8Q21.11(RS6472903),8Q24.21(RS11780156),BRCA2(RS11571833),CASP8(RS1157183),CCND1(RS1045485),CCND1( RS78540526),CDCA7(RS1550623),CDKN2A / B(RS1011970),CHEK2 I157T(RS17879961),DNAJC1(RS11814448),EBF1(RS1432679),ESR1(RS12662670,RS2046210),FGFR2(RS2981579),FOXQ1(RS11242675),FTO(RS11242675),FTO( RS17817449),HNF4G(RS2943559),LSP1(RS3817198),MKL1(RS6001930),NTN4(RS17356907),PDE4D(RS1353747),PEX14(RS616488),PthlH(RS10771399),RAB3C(RS10472076),RAD51L1(RS999737),SSBP4( RS4808801),TCF7L2(RS7904519),TERT(RS2736108,RS7726159),TOX3(RS3803662),ZNF365(RS10995190)。 ;效果:发明允许使用多重PCR和随后用寡核苷酸生物微芯片(Biochip)的杂交来同时测定所选基因座的基因型。2 Cl,2 dwg,2 tbl,3前

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