Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

Serrated polyposis syndrome (SPS) is characterised by the occurrence of multiple serrated polyps in the large bowel. Defined clinically by the 2010 revised WHO, SPS is associated with an increased risk of colorectal cancer (CRC) for affected individuals and their first-degree relatives. Yan et al1 recently reported their findings from whole-exome sequencing (WES) of six individuals with SPS from four families, identifying a single family carrying a germline likely pathogenic variant in RNF43 (c.953-1 G>A, c.953_954delAG, p.E318fs). In this family, six carriers were identified, five of whom met the WHO criteria for SPS. This adds to two previous reports of germline mutations within RNF43 in individuals with SPS or who developed multiple serrated polyps.2 3 The current study by Yan et al1 also importantly showed loss of second wildtype allele in 16 serrated polyps, five adenomatous polyps, and in the...
Source: Gut - Category: Gastroenterology Authors: Tags: PostScript Source Type: research

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Colonoscopy with polypectomy is frequently performed in pediatric patients based on symptoms, with the majority of polyps identified being benign juvenile pedunculated polyps with a vascular stalk. This is in distinction to adults where polypectomy is often performed as part of a colon cancer screening and prevention strategy and a higher fraction of polyps are sessile and or dysplastic. In adults, polypectomy techniques emphasize a need for deeper resection to ensure complete resection of adenomas or potential carcinoma in situ. Adenomatous polyps can occur in the pediatric age group and may be associated with an underlyi...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Topic of the Month Source Type: research
ConclusionsThe awareness of CRC risk and iFOBT screening are important strategies for early detection of CRC. We showed a CRC detection rate of 0.3 % among those who volunteered to have the iFOBT screening.
Source: Cancer Epidemiology - Category: Cancer & Oncology Source Type: research
Conclusion CSP is underutilized for small polyp resection despite its favorable safety and efficacy. Benign polyps are commonly referred for surgery and overt SMIC is underappreciated using endoscopic imaging. Addressing these issues may reduce diathermy-related adverse events, surgery, and unnecessary colonoscopic procedures for patients and reduce rates of post-colonoscopy colorectal cancer. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: Endoscopy International Open - Category: Gastroenterology Authors: Tags: Original article Source Type: research
CONCLUSIONS: High intakes of red and processed meats are strongly and especially associated with SSL risk and part of the association may be due to HCA intake. Future studies should evaluate other mechanism(s) and the potential for primary prevention. PMID: 32077920 [PubMed - as supplied by publisher]
Source: The American Journal of Clinical Nutrition - Category: Nutrition Authors: Tags: Am J Clin Nutr Source Type: research
Abstract Diet modifies the risk of colorectal cancer (CRC) and inconclusive evidence suggests yogurt may protect against CRC. We analyzed data collected from two separate colonoscopy-based case-control studies. The Tennessee Colorectal Polyp Study (TCPS) and Johns Hopkins Biofilm Study included 5446 and 1061 participants, respectively, diagnosed with hyperplastic polyp (HP), sessile serrated polyp (SSP), adenomatous polyp (AP), or without any polyps. Multinomial logistic regression models were used to derive OR and 95 % CI to evaluate comparisons between cases and polyp-free controls and case-case comparisons betw...
Source: The British Journal of Nutrition - Category: Nutrition Authors: Tags: Br J Nutr Source Type: research
Colorectal cancer (CRC) typically occurs when precancerous polyps in the colon or in the rectum transform into cancer. Signs of cancer may include rectal bleeding, blood in the stool, or a change in bowel movements. With routine screening, CRC can be prevented or detected early.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Tags: AGA Patient Education Section Source Type: research
(American Gastroenterological Association) These evidence-based recommendations support closer follow-up after colonoscopy screenings for some groups, less intense follow-up for others, and provide guidance for removing colorectal polyps.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
Colonoscopy with polypectomy reduces the incidence of and mortality from colorectal cancer (CRC).1,2 It is the cornerstone of effective prevention.3 The National Polyp Study showed that removal of adenomas during colonoscopy is associated with a reduction in CRC mortality by up to 50% relative to population controls.1,2
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: US Multi-Society Task Force Source Type: research
AbstractThe aim of the study was to evaluate the ability to detect extra-cardiac foci by means of whole-body18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in patients with definite endocarditis (IE) according to the modified Duke criteria and investigate the clinical impact of the findings. From January 2011 to December 2015 we included 178 patients (mean age 66  ± 14 years, 25% female) with IE in this multicentre study. FDG-PET/CT was part of the work-up for extra-cardiac foci in the including hospitals and was performed at a median of 9 days (IQR 10) af...
Source: The International Journal of Cardiovascular Imaging - Category: Radiology Source Type: research
We examined the influence of vitamin D supplementation on risk of colorectal adenomas and serrated polyps in a prespecified ancillary study of a large-scale prevention trial (the vitamin D and omegA-3 trial, VITAL) of individuals who were free of cancer and cardiovascular disease at enrollment.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
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