Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

AbstractTheAXIN2 gene, likeAPC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations inAXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of publishedAXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant inAXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11 –22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous). This highlights the importance of confirming phenotypic information in familial polyposis, to guide appropriate genetic investigations, as well as providing additional phenotypic and penetrance data to aid in clinical risk management recommendations. Our experience supports the inclusion ofAXIN2 on panels for testing of patients with polyposis.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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ConclusionThe fusion fascia of Fredet is useful to achieve CME and D3-L in right colon cancers with reduced risk of intraoperative complications. This structure is particularly suitable for minimally invasive surgery; therefore, we encourage awareness of the fascia of Fredet by colorectal surgeons.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
Conclusions: We suggested that GB polyps are associated with proximal colon polyps. Colonoscopy may be a more effective strategy for screening proximal precancerous lesions among patients with GB polyps. The association between GB disease and colon polyps demands further prospective investigation. PMID: 31611916 [PubMed]
Source: Gastroenterology Research and Practice - Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research
Colon polyp surveillance now accounts for 25% of all colonoscopies performed. The evidence that colonoscopy surveillance reduces colorectal cancer (CRC) incidence or mortality is weak. The biology of the baseline lesions and quality of the baseline exam are two primary factors contributing to post-colonoscopy CRC. Prior recommendations for surveillance were based largely on the likelihood that patients with adenomas would develop advanced adenomas, a surrogate for CRC. There is now evidence that baseline colonoscopy findings are strongly associated with the risk of incidence or death from CRC.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
Abstract Colorectal cancer is one of the deadliest cancers worldwide. Effective screening, surveillance, and prevention can decrease its incidence, mortality and burden. This meta-analysis aims to provide a pooled estimation of 5-year survival rate for colorectal cancer based on topography codes and treatment in Iranian population. A systematic search for literature was done in international and national databases up to July 2018. Twenty-seven studies from 4929 articles met the eligible criteria. The overall pooled 5-year survival rate of colorectal cancer, colon, rectal and sigmoid were estimated 56% (95% CI: 49,...
Source: Neoplasma - Category: Cancer & Oncology Authors: Tags: Neoplasma Source Type: research
ConclusionsA focused training intervention was associated with a strong trend toward increased ADRs among certified endoscopists. While the described training interventions definitely show promise, further efforts around continuing professional developments activities are needed to more consistently improve ADRS among certified endoscopists.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
AbstractBackgroundColorectal cancer is the fourth most commonly diagnosed cancer in the United States. Approximately 3 –10% of the population has an increased risk for colorectal cancer due to family history and warrants more frequent or intensive screening. Yet,
Source: Trials - Category: Research Source Type: clinical trials
Authors: Gupta V, East JE Abstract Serrated polyps are considered precursor lesions that account for 15% to 30% of colorectal cancers, and they are overrepresented as a cause of interval cancers. They are difficult to detect and resect comprehensively; however, recent data suggest that high definition endoscopy, chromoendoscopy (via spray catheter, pump or orally), narrow band imaging, split-dose bowel preparation and a slower withdrawal (>6 minutes) can all improve detection. Cold snare resection is effective and safe for these lesions, including cold snare piecemeal endoscopic mucosal resection, which is likel...
Source: Gut and Liver - Category: Gastroenterology Tags: Gut Liver Source Type: research
Conclusions: Solitary PJPs did not recur in this study. Although examination of the entire gastrointestinal tract using esophagogastroduodenoscopy, enteroscopy, and colonoscopy is desirable to exclude Peutz-Jeghers syndrome, follow-up endoscopy after endoscopic polyp resection may be unnecessary, once the diagnosis of a solitary PJP is made. PMID: 31582972 [PubMed]
Source: Gastroenterology Research and Practice - Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research
Suppression of colorectal cancer by means of chemoprevention is gaining great attention owing to promising outcomes with less adverse effects in preclinical and clinical trials. The present study aims to explore the mechanism of chemoprevention by p-coumaric acid (p-CA) in a short-term preclinical model of colon cancer. 1,2-dimethylhydrazine-administered rats supplemented with p-CA showed downregulation of the expression of colonic proteins, namely, cyclin B1, cdc2 and mdm2, which regulate cell cycle, and immediate early response genes, namely, c-fos, c-jun and c-myc, which regulate cell proliferation. Apoptosis induction ...
Source: European Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Research Papers: Gastrointestinal Cancer Source Type: research
The long-term risks of colorectal cancer (CRC) and CRC-related death following adenoma removal are uncertain. Data are needed to inform evidence-based surveillance guidelines, which vary in follow-up recommendations for some polyp types. Using data from a large, community-based integrated health care setting, we examined the risks of CRC and related death by baseline colonoscopy adenoma findings.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
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