Cancer-risk by family history and mismatch-repair mutation in Lynch syndrome.
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]
Conclusions Lynch syndrome should be suspected in families with familial pancreatic cancer, even in the absence of colon cancers. Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed.
CONCLUSION: LS colonic and extracolonic clinical management, surveillance and therapy are complex and several aspects remain unclear. In the future, surveillance and clinical management need to be more tailored to gene and gender. Future prospective trials are needed. PMID: 31739377 [PubMed - in process]
Publication date: Available online 21 August 2019Source: Journal of Visceral SurgeryAuthor(s): B. Menahem, A. Alves, J.M. Regimbeau, C. SabbaghSummaryNearly 5% of colorectal cancers are related to constitutional genetic abnormalities. In Lynch Syndrome (LS), the abnormality is a mutation of the deoxyribonucleic acid (DNA) repair system. The goal of this update is to update indications and surgical strategies for patients with LS. Different spectra of disease are associated with LS. The narrow spectrum includes cancers with a high relative risk: colorectal cancer (CRC), endometrial cancer, urinary tract cancers and small in...
ConclusionsThis case highlights the importance of genetic testing with rare malignancies because the full scope of phenotypic sequelae for known hereditary syndromes has not been mapped.
Introduction: Lynch syndrome or hereditary non-polyposis colon cancer (HNPCC) is inherited disorder in DNA mismatch repair genes which lead to microsatellite instability and increased risk of developing such cancers as colorectal, gastric, endometrial and others in relatively young adults under 50 years of age. Since genes who account for this syndrome have been identified and are transferred to next generations, many countries have launched a screening programme for selected patient groups to carry out prevention strategies.
Conclusion: Lynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in MSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types. PMID: 30386444 [PubMed]
ConclusionLynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency inMSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.
Lynch syndrome is a hereditary cancer syndrome that substantially increases risk of developing colorectal and endometrial cancer, as well as elevating the risk of developing cancer of the stomach, ovaries, urinary tract, brain, and small bowel [1,2]. Lynch syndrome is caused by a germline pathogenic variant (i.e., disease-associated mutation) in one of four mismatch repair genes: MLH1, MSH2, MSH6, and PMS2. Pathogenic variants in MSH2 and MLH1 are associated with up to 74% and 54% lifetime risks for colorectal and endometrial cancer, respectively, while PMS2 and MSH6 are associated with up to 22% and 26% lifetime risks for...
Introduction: Gastric cancer (GC) risk in Lynch Syndrome (LS) is up to 13% instead of less than 1% in general population. LS is an autosomal dominant disorder caused by germ-line mutations in one of the mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2) or EpCAM gene determining mainly risk of colorectal and endometrial cancer and a lower risk of small bowel, urothelial and gastric cancer. GCs in this setting are usually intestinal type and show microsatellite instability (MSI-H) and loss of MMR protein expression. There are not clear guidelines for surveillance because the histopathologic transformation pathway is unkno...
Question: A 62-year-old female with Lynch syndrome had a CT scan performed after a fall, which incidentally discovered multiple polypoid lesions within the stomach. The patient had a history of endometrial adenocarcinoma at age 50, as well as a family history significant for a sister with colon cancer at age 59. Based on this cancer history she had recently undergone genetic testing which revealed a pathogenic PMS2 mutation, consistent with Lynch syndrome. The patient was asymptomatic from a gastrointestinal perspective without any nausea, vomiting, abdominal pain, diarrhea, rectal bleeding, or unintentional weight loss.