Document Details

Document Type : Thesis 
Document Title :
Survey of mutational hotspots in colorectal cancer (CRC) from the Kingdom of Saudi Arabia
دراسة المناطق الوراثية والمسرطنة الأكثر شيوعا في سرطان القولون والمستقيم في المملكة العربية السعودية
 
Document Language : Arabic 
Abstract : Colorectal cancer (CRC) is a heterogeneous disease with different molecular characteristics associated with many variables such as the sites from which the tumors originate or the presence or absence of chromosomal instability. Identification of such variables, particularly mutational hotspot, often carries a significant diagnostic and/ or prognostic value that could ultimately affect the therapeutic outcome. Using the cancer hotspot panel v2 from life technologies in the analysis of CRC cases lead to the identification of frequent mutations in TP53 (52%), APC (41%), KRAS (31%), SMAD4 (18.5%), PIK3CA (13%), EGFR (9%), PTEN (7%), BRAF (5.5%). Other genes harbored mutations at lower frequency. KRAS mutations are significantly associated with grade one (well differentiated)) of CRC (Fisher ′s exact t-test; p= 0.042). PIK3CA mutations were a marker for poor disease-specific survival in our cohort (Kaplan-Meier log-rank test, p=0.031). Finding actionable mutations using next generation sequencing and mutational hotspot analysis could help in the clinical decision-making regarding therapeutic intervention for individual patients and provide better diagnosis or prognosis. 
Supervisor : DR. Ashraf Dallol 
Thesis Type : Master Thesis 
Publishing Year : 1438 AH
2017 AD 
Added Date : Thursday, January 19, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
رانيا إدريس فتح الدينFatahaldeen, Raneia IdreesResearcherMaster 

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