Sporadic Colon Cancer: Mismatch Repair Immunohistochemistry and Microsatellite Instability in Omani Subjects

Ashktorab, Hassan; Brim, Hassan; Al-Riyami, Marwa; Date, Anand; Al-Mawaly, K.; Kashoub, Masoud; Al-Mjeni, Rayhaneh; Smoot, Duane T.; Al-Moundhri, Mansour; Al-Hashemi, Suleiman; Ganguly, Shyam S.; Raeburn, Sandy

doi:10.1007/s10620-007-0189-3

Cited by 27 publications

(27 citation statements)

References 27 publications

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“…[16] A series on individuals undergoing screening colonoscopy in China demonstrated that the ADR and advanced neoplasia rates were 26.1% and 10.5%, respectively. [17] A similar study from Thailand found the ADR to be 16.5%,[18] while a study from Korea in which individuals aged from 40 to 49 years were screened for CRC reported the ADR as 22.3%.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and characteristics of colonic polyps and adenomas in 2654 colonoscopies in Saudi Arabia

Almadi

Alharbi

Azzam

et al. 2014

Saudi J Gastroenterol

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Background/Aims:Colorectal cancer (CRC) is the second most common malignancy in the Saudi population, with an increasing incidence over the past 20 years. We aim to determine the baseline polyp as well as adenoma prevalence in a large cohort of patients and to find the possible age in which, if deemed appropriate, a CRC screening program should be initiated.Patients and Methods:A retrospective cohort study was conducted using an endoscopic reporting database of individuals seen at a major tertiary care university hospital (King Khalid University Hospital) in Riyadh, Saudi Arabia. Consecutive Saudi patients who underwent a colonoscopy between August 2007 and April 2012 were included. Patients were excluded if the indication for the colonoscopy was colon cancer, colonic resection, active colitis, active diverticulitis, inflammatory bowel disease, or if the patient was referred for polypectomy.Results:2654 colonoscopies were included in the study. The mean age of the study population was 50.5 years [standard deviation (SD) 15.9] and females represented 57.7%. The polyp detection rate in completed colonoscopies was 20.8% (95% CI: 19.2-22.5). Adenomas were found in 8.1% (95% CI: 7.1-9.1), while advanced adenomas were found in only 0.5% (95% CI: 0.2-0.7). Adenomas were found in the left side of the colon in 33.9%, followed by the rectum in 14.6%, ascending colon and cecum in 14.2%, transverse colon in 8.7%, and in multiple locations in 28.7%. Those with a prior history of polyps or CRC were more likely to have an adenoma at colonoscopy than those who did not (14.3% vs. 6.6%; P < 0.01). The adenoma prevalence varied between age groups and ranged from 6.2% to 13.6% with a higher proportion in older individuals; this trend was seen both in males (6.0-14.5%) and females (6.4-14.6%) as well as in those who had screening colonoscopies (6.3-18.4%). No age could be found at which a CRC screening program would be appropriate to initiate.Conclusion:The prevalence of polyps and adenomas in this cohort is less than that reported in the Western populations. But as this cohort included younger and symptomatic patients with only a small proportion undergoing screening, further studies in an asymptomatic population are needed.

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Section: Discussionmentioning

confidence: 99%

Prevalence and characteristics of colonic polyps and adenomas in 2654 colonoscopies in Saudi Arabia

Almadi

Alharbi

Azzam

et al. 2014

Saudi J Gastroenterol

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“…The Cancer Genome Atlas (TCGA) project reported MSH3 variants in 40% of hypermutated tumors of which 3/4 were MSI-H [18–24]. The MSH3 gene, located on chromosome 5q11–q12 [24, 25], encodes the MSH3 protein that has a partially redundant function with MSH6 [25, 26].…”

Section: Introductionmentioning

confidence: 99%

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer

et al. 2016

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PURPOSENext Generation Sequencing (NGS) is currently used to establish mutational profiles in many multigene diseases such as colorectal cancer (CRC), which is on the rise in many parts of the developing World including, Iran. Little is known about its genetic hallmarks in these populations.AIMTo identify variants in 15 CRC-associated genes in patients of Iranian descent.RESULTSThere were 51 validated variants distributed on 12 genes: 22% MSH3 (n = 11/51), 10% MSH6 (n = 5/51), 8% AMER1 (n = 4/51), 20% APC (n = 10/51), 2% BRAF (n = 1/51), 2% KRAS (n = 1/51), 12% PIK3CA (n = 6/51), 8% TGFβR2A (n = 4/51), 2% SMAD4 (n = 1/51), 4% SOX9 (n = 2/51), 6% TCF7L2 (n = 3/51), and 6% TP53 (n = 3/51). Most known and distinct variants were in mismatch repair genes (MMR, 32%) and APC (20%). Among oncogenes, PIK3CA was the top target (12%).MATERIALS AND METHODSCRC specimens from 63 Shirazi patients were used to establish the variant' profile on an Ion Torrent platform by targeted exome sequencing. To rule-out technical artifacts, the variants were validated in 13 of these samples using an Illumina NGS platform. Validated variants were annotated and compared to variants from publically available databases. An in-silico functional analysis was performed. MSI status of the analyzed samples was established.CONCLUSIONThese results illustrate for the first time CRC mutational profile in Iranian patients. MSH3, MSH6, APC and PIK3CA genes seem to play a bigger role in the path to cancer in this population. These findings will potentially lead to informed genetic diagnosis protocol and targeted therapeutic strategies.

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“…In addition, the identification of the epigenetically deregulated signaling pathways may provide prudent means of selecting CRC patients who will be particularly responsive to targeted therapies. [5][6][7][8]16 We have shown that the prevalence and the incidence of colorectal cancer in the African American population is worse than the general population, [17][18][19][20][21][22][23][24] and studies are underway to investigate the risk factors for this disparity. Therefore, epigenetic determinants are part of the parameters that need to be investigated in CRC from AA population.…”

Section: Introductionmentioning

confidence: 99%

DNA methylome profiling identifies novel methylated genes in African American patients with colorectal neoplasia

et al. 2014

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Sporadic Colon Cancer: Mismatch Repair Immunohistochemistry and Microsatellite Instability in Omani Subjects

Cited by 27 publications

References 27 publications

Prevalence and characteristics of colonic polyps and adenomas in 2654 colonoscopies in Saudi Arabia

Prevalence and characteristics of colonic polyps and adenomas in 2654 colonoscopies in Saudi Arabia

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer

DNA methylome profiling identifies novel methylated genes in African American patients with colorectal neoplasia

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