Small-Bowel Neoplasia in Asymptomatic Lynch Syndrome: StudySmall-Bowel Neoplasia in Asymptomatic Lynch Syndrome: Study

The prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome is too low to warrant screening, researchers say. Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Hematology-Oncology News Source Type: news

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The additional diagnostic value of dye-based chromoendoscopy (CE) compared to standard and high-definition white-light endoscopy (SD-WLE and HD-WLE) for surveillance of Lynch syndrome patients is subject to debate.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Poster abstracts Source Type: research
In this study, we performed Targeted Next-Generation Sequencing of MMR pathway genes MLH1, MSH2, MSH6, EPCAM, and PMS2 in a cohort of 711 patients with hereditary BC, 60 patients with sporadic BC, and 492 healthy donors. Sixty-nine patients (9.7%) with hereditary BC harbored at least one germline mutation in the MMR pathway genes, of them 32 patients (4.5%) harbored mutations in MMR pathway genes which we define as pathogenic or likely pathogenic, and of them 26 patients (3.6%) did not have any pathogenic mutations in DDR pathway genes, compared to two mutations in MMR pathway genes (0.4%) detected in a group of 492 health...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusion: This cohort demonstrates the effectiveness of LS surveillance and suggests possible tailored surveillance strategies by gene mutation and family history. PMID: 32448028 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
No abstract available
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Image of the Month Source Type: research
ConclusionsAmong a high-risk population for CRC, in particular LS, an extended surgery may be considered in CRC patients with specific risk factors (MLH1 orMSH2 germline pathogenic variants, history of colorectal adenomas) to reduce the risk of mCRC development.
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
The original version of this article unfortunately contained mistakes.
Source: Journal of Cancer Education - Category: Cancer & Oncology Source Type: research
Genetics in Medicine, Published online: 15 May 2020; doi:10.1038/s41436-020-0819-0Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is recommended in endometrial carcinomas as a screening test for Lynch syndrome, and mismatch repair deficiency (MMRd) is reported in ∼30% of cases. However, few studies have evaluated the rate of MMR loss in uterine carcinosarcomas. A 5-year retrospective database search of uterine carcinosarcomas was performed at 3 academic institutions. The histologic diagnoses, type of carcinoma present, and MMR IHC interpretations were confirmed by a gynecologic pathologist. One hundred three cases of uterine carcinosarcomas with available MMR IHC results were identifie...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
ConclusionThese results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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