癌症科学与治疗

利用靶向深度测序技术研究结直肠癌患者特定基因的遗传变异

Abstract

Eman E Farghal?Marwa H Saied?Fatma M Ghaith?Gamal I Moussa?Gehan El-Sharnobi?Samah M Soliman?Hesham Tawfik?Omnia Abdelfattah6?Enas A Abdul-Baki?Fatma Gharib?Lamis Mohamed6?Mohamed R El-Shanshory?Amira Y Abdelnaby?Mohamed L Salem?Mona Watany?Abdel Aziz A Zidan?Yahia S Abdou ? Said M Abdou

??????? (CRC) ?????????????????????????????????????????? CRC ???????????????????????? CRC ?????????????

???? 24 ???? CRC ??????????????????????? DNA??? TruSight CRC ?? (Illumina) ?? 15 ??????????? Illumina Miseq ?????????????????? (SNP) ????/?? (Indel)?????????????????????????????? CRC ?????? EGFR ?????

????????? TP53 ???????? 140 ????65%??105 ???????????29 ?????? 6 ?????? SNP????ERBB2 ? 17 ????8.8%??????????? 8 ?????????????? 12 ??????? 16 ??????TP53 ? 6 ??KRAS ? 7 ???????????? CRC ????????? TP53 C>A?rs121912654?Val157Phe???????? KRAS ????????? EGFR ??????????

??? CRC ?????????? TP53 ?????? ERBB2?NRAS?KRAS ? PIK3CA ?????????????????????????????????????????? ERBB2 ????