Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer

2006 ◽  
Vol 133 (1) ◽  
pp. 65-70 ◽  
Author(s):  
P. Chaksangchaichot ◽  
P. Punyarit ◽  
S. Petmitr
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Gene Mutations ◽  
Sporadic Colorectal Cancer ◽  
Hmlh1 Gene

scholarly journals Distinct BRAF (V600E) and KRAS Mutations in High Microsatellite Instability Sporadic Colorectal Cancer in African Americans

2009 ◽  
Vol 15 (4) ◽  
pp. 1155-1161 ◽  
Author(s):  
Krishan Kumar ◽  
Hassan Brim ◽  
Francis Giardiello ◽  
Duane T. Smoot ◽  
Mehdi Nouraie ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
African Americans ◽  
Microsatellite Instability ◽  
Braf V600e ◽  
Sporadic Colorectal Cancer ◽  
Kras Mutations

scholarly journals Identification of positively and negatively selected driver gene mutations associated with colorectal cancer with microsatellite instability

2018 ◽  
Vol 29 ◽  
pp. viii178
Author(s):  
V. Jonchere ◽  
L. Marisa ◽  
M. Greene ◽  
A. Guilloux ◽  
A. Collura ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Gene Mutations ◽  
Driver Gene

scholarly journals Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

PLoS ONE ◽  
2014 ◽  
Vol 9 (11) ◽  
pp. e113350 ◽  
Author(s):  
Walid M. Naser ◽  
Mohamed A. Shawarby ◽  
Dalal M. Al-Tamimi ◽  
Arun Seth ◽  
Abdulaziz Al-Quorain ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Gene Mutations ◽  
Sporadic Colorectal Cancer ◽  
Kras Gene

scholarly journals Mutational Analysis of Patients With Colorectal Cancer in CALGB/SWOG 80405 Identifies New Roles of Microsatellite Instability and Tumor Mutational Burden for Patient Outcome

2019 ◽  
Vol 37 (14) ◽  
pp. 1217-1227 ◽  
Author(s):  
Federico Innocenti ◽  
Fang-Shu Ou ◽  
Xueping Qu ◽  
Tyler J. Zemla ◽  
Donna Niedzwiecki ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Metastatic Colorectal Cancer ◽  
Mutational Analysis ◽  
Gene Mutations ◽  
Phase Iii ◽  
First Line ◽  
Mutational Burden ◽  
Significant Difference ◽  
Tumor Mutational Burden

PURPOSE CALGB/SWOG 80405 was a randomized phase III trial that found no statistically significant difference in overall survival (OS) in patients with first-line metastatic colorectal cancer treated with chemotherapy plus either bevacizumab or cetuximab. Primary tumor DNA from 843 patients has been used to discover genetic markers of OS. PATIENTS AND METHODS Gene mutations were determined by polymerase chain reaction. Microsatellite status was determined by genotyping of microsatellites. Tumor mutational burden (TMB) was determined by next-generation sequencing. Cox proportional hazard models were used, with adjusting factors. Interaction of molecular alterations with either the bevacizumab or the cetuximab arms was tested. RESULTS Patients with high TMB in their tumors had longer OS than did patients with low TMB (hazard ratio [HR], 0.73 [95% CI, 0.57 to 0.95]; P = .02). In patients with microsatellite instability–high (MSI-H) tumors, longer OS was observed in the bevacizumab arm than in the cetuximab arm (HR, 0.13 [95% CI, 0.06 to 0.30]; interaction P < .001 for interaction between microsatellite status and the two arms). Patients with BRAF mutant tumors had shorter OS than did patients with wild-type (WT) tumors (HR, 2.01 [95% CI, 1.49 to 2.71]; P < .001). Patients with extended RAS mutant tumors had shorter OS than did patients with WT tumors (HR, 1.52 [95% CI, 1.26 to 1.84]; P < .001). Patients with triple-negative tumors (WT for NRAS/ KRAS/ BRAF) had a median OS of 35.9 months (95% CI, 33.0 to 38.8 months) versus 22.2 months (95% CI, 19.6 to 24.4 months ) in patients with at least one mutated gene in their tumors ( P < .001). CONCLUSION In patients with metastatic colorectal cancer treated in first line, low TMB, and BRAF and RAS mutations are negative prognostic factors. Patients with MSI-H tumors benefited more from bevacizumab than from cetuximab, and studies to confirm this effect of MSI-H are warranted.

Adenoma incidence after resection of sporadic colorectal cancer with microsatellite instability

2010 ◽  
Vol 101 (7) ◽  
pp. 577-581 ◽  
Author(s):  
Ki Joo Kang ◽  
Dong Hyun Sinn ◽  
Sung Hyun Park ◽  
Jin Yong Kim ◽  
Dong Kyung Chang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Sporadic Colorectal Cancer

Use of immunohistochemical versus microsatellite analyses as markers for colorectal cancer

2017 ◽  
Vol 43 (2) ◽  
pp. 134-141
Author(s):  
Utku Tantoğlu ◽  
Seher Yüksel ◽  
Cihangir Akyol ◽  
Haldun Doğan ◽  
Nükhet Kutlay ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Immunohistochemical Analysis ◽  
Sporadic Colorectal Cancer ◽  
Molecular Tests ◽  
Antibody Panel ◽  
Mismatch Repair Proteins ◽  
Good Concordance

Abstract Objectives: Our aim was to determine how well immunohistochemical analysis identified colon cancer patients with microsatellite instability in Turkish patients. Material and methods: Subjects were patients that underwent surgery for colorectal cancer in our institution between 2006 and 2011. Patients were grouped as: (1) suspected Lynch syndrome (n=14), (2) familial colorectal cancer (n=14), and (3) sporadic colorectal cancer groups (n=14). Mismatch repair proteins were analyzed by a four antibody-panel immunohistochemistry. Microsatellite instability analysis was conducted on DNA samples using MSI-PCR followed by fragment analysis. Results: The immunohistochemistry and PCR results had good concordance in 35/42 patients. Both microsatellite instability and at least one mismatch repair protein deficiency were detected in 11 patients, and both microsatellite stability and normal expression of mismatch repair proteins were detected in 24 patients. Test results were discordant in seven of the patients. Conclusion: As it is not feasible to perform expensive molecular tests in healthcare units in many developing countries, the four antibody-panel immunohistochemistry is a reliable and affordable method for screening for colorectal cancer, including Lynch syndrome and sporadic cases when suspected.

The mutual exclusiveness of presence of the microsatellite instability and alteration of p53 in sporadic colorectal cancer

2000 ◽  
Vol 118 (4) ◽  
pp. A59 ◽  
Author(s):  
Togo Goichi ◽  
Okamoto Makoto ◽  
Matsumura Masayuki ◽  
Kato Jun ◽  
Yamaji Hiroshi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Sporadic Colorectal Cancer

Molecular Diagnostics of Colorectal Cancer

2011 ◽  
Vol 135 (5) ◽  
pp. 578-587
Author(s):  
Ahmed Bedeir ◽  
Alyssa M. Krasinskas
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Molecular Diagnostics ◽  
Growth Factor Receptor ◽  
Gene Mutations ◽  
Response To Therapy ◽  
Molecular Testing ◽  
Cancer Predisposition Syndrome ◽  
Standard Tool

Abstract Context.—Of all gastrointestinal tract epithelial malignancies, molecular diagnostics has impacted colorectal cancer the most. Molecular testing can detect sporadic and inherited colorectal cancers that arise through the microsatellite instability pathway and can determine the efficacy of targeted drug therapy. Objectives.—To review the microsatellite instability pathway of colorectal carcinoma carcinogenesis and to demonstrate the diagnostic utility of molecular testing in the detection of patients with Lynch syndrome, an inherited disorder of this pathway. Also, to review the significance of detection of KRAS and BRAF gene mutations in predicting the response to anti–epidermal growth factor receptor therapies. Data Sources.—This article is based on original publications and review articles that are accessible through the PubMed biomedical database (US National Library of Medicine). Conclusions.—In modern pathology practice, molecular testing is a standard tool that is used to diagnose an inherited colorectal cancer predisposition syndrome (Lynch syndrome) and to help predict outcome and response to therapy for patients with advanced colorectal cancer.

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