Genetic Evaluation and Management of Lynch SyndromeGenetic Evaluation and Management of Lynch Syndrome
What do the latest guidelines say about genetic testing for and management of Lynch syndrome? The American Journal of Gastroenterology
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]
No abstract available
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.
The original version of this article unfortunately contained mistakes.
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
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...
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.
Condition: Lynch Syndrome Interventions: Drug: Atorvastatin 20mg; Drug: Atorvastatin 20mg AND Aspirin 325 mg Sponsor: Fox Chase Cancer Center Recruiting