Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer

Bougatef, Karim; Ouerhani, Slah; Moussa, Amel; Kourda, Nadia; Coulet, Florence; Colas, Chrystelle; Lahely, Yannick Blondeau; Najjar, Tawfik; Jilani, Sarra Ben; Benammar-Elgaaïed, Amel; Soubrier, Florent; Marrakchi, Raja

doi:10.1016/j.cancergencyto.2008.06.016

Cited by 19 publications

(27 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It must also be kept in mind that population differences have been reported in relation to APC mutation frequency, possibly due to ethnic composition, sample size, mutations outside the MCR region, and other APC genetic alterations such as large deletions and the loss of heterozygosity (LOH) in the 5q21 region. 2,11,33,34 Furthermore, a low mutation frequency in the KRAS gene was found in the SC and CRC samples analyzed. The frequency reported for SC concurred with those reported in the literature, which are in a range from 0 to 10%.…”

Section: Discussionmentioning

confidence: 89%

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

Palacio-Rúa

Isaza-Jiménez

Ahumada-Rodríguez

et al. 2014

Revista de Gastroenterología de México (English Edition)

View full text Add to dashboard Cite

Background: Stomach cancer (SC) and colorectal cancer (CRC) present with high rates of incidence and mortality in the worldwide population. These 2 tumors are characterized by great genetic heterogeneity. Up to now, there have been no molecular studies that analyze the mutations in the APC, KRAS, and TP53 genes in the Colombian/Latin American population. Objectives: To analyze mutations in the APC, KRAS, and TP53 genes through direct sequencing in 59 patients with SC and CRC. Patients and methods: Twenty-nine patients with SC and 30 with CRC were studied. An analysis of the mutations of the 3 genes was carried out using polymerase chain reaction and direct sequencing techniques. Results: A 30.5% total mutation frequency was found. The most frequently mutated gene was APC (15.3%), followed by KRAS (10.1%) and TP53 (5.1%). The CRC samples had a mutation frequency of 46.7% and it was 13.3% in the SC samples (P = .006). No mutations occurred simultaneously in the 3 genes. Mutations in 2 genes were found in only 6 tumor samples (10%). There was also a high frequency of polymorphisms in both types of cancer, the most common of which was the rs41115 polymorphism, located on the APC gene. Conclusion: The APC, KRAS, and TP53 gene mutations were more common in CRC than in SC. Our results suggest the existence of different genetic pathways in the carcinogenesis of SC and ଝ Please cite this article as: Palacio-Rúa KA, Isaza-Jiménez LF, Ahumada-Rodríguez E, Muñetón-Peña CM. Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon. Revista de Gastroenterología de México. 2014;79:79---89.

show abstract

Section: Discussionmentioning

confidence: 89%

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

Palacio-Rúa

Isaza-Jiménez

Ahumada-Rodríguez

et al. 2014

Revista de Gastroenterología de México (English Edition)

View full text Add to dashboard Cite

show abstract

“…In these cases, large portions of the protein, including defined regulatory domains, are lost. Recent studies, using optimized technology to identify base pair alterations, indicate that in a significant number of cases, however, germline as well as sporadic single amino acid substitutions (missense mutations) in Apc predispose to development of colorectal adenomas [64]. Notably, a significant number of APC missense mutations were reported in tumors originating from various tissues (listed in additional file 1, Table S1, including references therein).…”

Section: Introductionmentioning

confidence: 99%

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

et al. 2011

View full text Add to dashboard Cite

SummaryMutations in the adenomatous polyposis coli (APC) tumor suppressor gene strongly predispose to development of gastro-intestinal tumors. Central to the tumorigenic events in APC mutant cells is the uncontrolled stabilization and transcriptional activation of the protein β-catenin. Many questions remain as to how APC controls β-catenin degradation. Remarkably, the large C-terminal region of APC, which spans over 2000 amino acids and includes critical regions in downregulating β-catenin, is predicted to be natively unfolded. Here we discuss how this uncommonly large disordered region may help to coordinate the multiple cellular functions of APC. Recently, a significant number of germline and somatic missense mutations in the central region of APC were linked to tumorigenesis in the colon as well as extra-intestinal tissues. We classify and localize all currently known missense mutations in the APC structure. The molecular basis by which these mutations interfere with the function of APC remains unresolved. We propose several mechanisms by which cancer-related missense mutations in the large disordered domain of APC may interfere with tumor suppressor activity. Insight in the underlying molecular events will be invaluable in the development of novel strategies to counter dysregulated Wnt signaling by APC mutations in cancer.

show abstract

“…In Tunisian patients, the mutational spectrum of APC is largely unknown. Indeed, the sole study of Bougatef et al showed the presence of 14 APC mutations (29%) detected in 23% of colorectal tumor cases (52). In the present study, 52% of tumors harbor nonsense or frameshift mutation in the MCR resulting to inactive APC protein.…”

Section: Discussionmentioning

confidence: 68%

Expression and Mutation Pattern of β-Catenin and Adenomatous Polyposis Coli in Colorectal Cancer Patients

Abdelmaksoud-Damak

Miladi-Abdennadher

Triki

et al. 2015

Archives of Medical Research

View full text Add to dashboard Cite

Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer

Cited by 19 publications

References 32 publications

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

Expression and Mutation Pattern of β-Catenin and Adenomatous Polyposis Coli in Colorectal Cancer Patients

Contact Info

Product

Resources

About