Diagnostic Yield of Lynch Syndrome Screening Drops With Age

TUESDAY, June 11, 2019 -- The incremental diagnostic yield of Lynch syndrome (LS) screening decreases substantially after age 70 to 75 years, according to a study published online June 11 in the Annals of Internal Medicine. Dan Li, M.D., from Kaiser...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news

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AbstractPurpose of ReviewOver the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.Recent FindingsNovel genes have been identified associated with predisposition to CRC and polyposis including,POLE,POLD1,NTHL1,MSH3, andRNF43. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely imp...
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research
Lynch syndrome is the most common inherited cause of colorectal cancer (CRC). Contemporary and mutation-specific estimates of CRC-risk in patients undergoing colonoscopy would optimize surveillance strategies. We performed a prospective national cohort study, using data from New Zealand, to assess overall and mutation-specific risk of CRC in patients with Lynch syndrome undergoing surveillance.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
Conclusion: These observations suggest that early onset colorectal cancer and AML may be related diseases.
Source: American Journal of Clinical Oncology - Category: Cancer & Oncology Tags: Original Articles: Gastrointestinal Source Type: research
Abstract The gut microbiota has been associated with colorectal cancer (CRC), but causal alterations preceding CRC have not been elucidated. To prospectively assess microbiome changes prior to colorectal neoplasia, we investigated samples from 100 Lynch syndrome patients using 16S rRNA gene sequencing of colon biopsies, coupled with metagenomic and metatranscriptomic sequencing of feces. Colectomy and CRC history represented the largest effects on microbiome profiles. A subset of Clostridiaceae were depleted in stool corresponding with baseline adenomas, while Desulfovibrio was enriched both in stool and in mucosa...
Source: Cell Host and Microbe - Category: Microbiology Authors: Tags: Cell Host Microbe Source Type: research
DR ROBERT CIMA (Rochester, MN): The authors present a single-institution experience of patients with genetically confirmed Lynch syndrome, who underwent segmental colectomy as treatment for index colon cancer. The natural history of these patients is not well described in the literature, and it suggests it is tied to their underlying genetic profile.
Source: Journal of the American College of Surgeons - Category: Surgery Tags: Southern surgical association article Source Type: research
Lynch syndrome is the most common inherited cause of gastrointestinal cancer. Although current guidelines recommend endoscopic screening for gastric cancer and Helicobacter pylori infection in carriers of germline variants causing Lynch syndrome, there are limited data to support these recommendations.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Tags: Issue Highlights Source Type: research
The original version of this article unfortunately contained a mistake. The variants listed in Table 3 of the original version of this article are not in line with the latest HGVS (Human Genome Variation Society) nomenclature (version 19.01).
Source: Journal of Gastrointestinal Cancer - Category: Cancer & Oncology Source Type: research
Abstract Patients with hereditary predisposition to digestive cancer are at high risk of neoplasia and management in expert centers is recommended. The PRED-IdF network was thus created in 2009, with the support of the French National Cancer Institute (INCa), covering Paris and its suburbs, including five teaching hospitals and two oncology-dedicated institutes. The aim of this network is to offer optimized cancer screening programs based on expert recommendations to patients with hereditary predisposition. Any patient with suspicion of hereditary colorectal syndrome can be referred to the PRED-IdF network. The mi...
Source: Annales de Pathologie - Category: Pathology Authors: Tags: Ann Pathol Source Type: research
CONCLUSIONS: BRCA1 carriers have the highest risk of occult neoplasia at RRSO, and the frequency increased with age. Women with BRCA1/2 mutations often have RRSO beyond recommended ages. One PALB2 carrier had FT intraepithelial neoplasia, a novel finding. Serial sectioning is critical to identifying occult neoplasia and should be performed for all risk-reducing surgeries. PMID: 32199636 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
Gazič Krajc Novaković The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, and PMS2) involved in the MMR system using immunohistochemistry (IHC) staining. According to the National Comprehensive Cancer Network (NCCN) guidelines, definitive diagnosis of LS requires the identification of the germline pathogenic variant in one of the MMR genes. In the report, we are presen...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
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