Lynch Syndrome: Current management In 2019

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 intestinal cancer. The broader spectrum includes ovarian tumors, glioblastoma, cutaneous tumors (keratoacanthomas and sebaceous tumors), biliary duct tumors, and gastric tumors. The clinical diagnosis of LS was initially based on the Amsterdam I and II Criteria published in the 1990s and subsequently on the revised Bethesda Criteria, which expanded the criteria and identified patients who should be screened for LS. For patients with LS, learned societies recommend early and regular endoscopic screening because of the high incidence of CRC, i.e., every one to two years from the age of 25 and then annually from the age of 40 or starting 10 years before the age of appearance of the youngest case of CRC in the family. Professional recommendations on prophylactic surgery to prevent cancers in patients with genetic predisposition were published in 2009 under the aus...
Source: Journal of Visceral Surgery - Category: Surgery Source Type: research

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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]
Source: Clinical Colorectal Cancer - Category: Cancer & Oncology Authors: Tags: Hered Cancer Clin Pract Source Type: research
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.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
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...
Source: Patient Education and Counseling - Category: International Medicine & Public Health Authors: Source Type: research
Abstract DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any one of four genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is an autosomal dominant condition that predisposes ...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
This article presents a rare clinical of a 61-year-old female diagnosed with extracolonic Lynch syndrome with six metachronous tumours acquiring in digestive tract during the period from 1993 to 2014 (over 21 years). No other cases of six primary malignancies in patient with Lynch syndrome have been reported in literature. Upon diagnosis of Lynch syndrome, it is important to screen patient for malignancies of different localization as this syndrome predisposes appearance of various cancers at earlier age than in general population. PMID: 28938854 [PubMed - as supplied by publisher]
Source: Acta Chirurgica Belgica - Category: Surgery Tags: Acta Chir Belg Source Type: research
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome, including ovarian, gastric, small bowel, hepatobiliary, renal, ureteral, skin, breast, prostate, and pancreatic cancers. Brain tumors are infrequent, but have been reported in series [1]. Individuals who have biallelic Lynch syndrome mutations in MLH1, MSH-2, MSH-6, or PMS-2 have a childhood-onset disorder now referred to as constitutional mismatch repair deficiency syndrome, in whic...
Source: Clinical Neurology and Neurosurgery - Category: Neurosurgery Authors: Tags: Case Report Source Type: research
In a recent note, I discused some theories about why the incidence of colonic cancer is increasing in younger patients (see:Why the Increased Incidence of Colonic Cancer Among Younger Americans?). Continuing in this same vein, a recent article I came across raised the issue of multigene panel testing to reveal genetic mutations in the roughly one-third of patents with early onset colonic cancer (see:Multigene Panel Testing Reveals Mutations in One-Third of Early Onset CRC Patients). Below is an excerpt from the article:Although the overall incidence of colorectal cancer (CRC) has been decreasing in the Unite...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Industry News Clinical Lab Testing Lab Industry Trends Lab Processes and Procedures Medical Research Preventive Medicine Source Type: blogs
AbstractCommunication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives. Clinical data about the probands were obtained from medical records. Thirty-eight participants (78...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Obstet Gynecol Surv 2016;71(1):26–27 Germline mutations in genes encoding DNA mismatch repair proteins have been identified in patients with Lynch syndrome. As a result of these mutations, patients with this syndrome are at a substantial elevated risk of endometrial and colon cancer in addition to ovarian, stomach, hepatobiliary tract, pancreatic, small bowel, urinary tract, and central nervous system cancers.
Source: Obstetrical and Gynecological Survey - Category: OBGYN Tags: Gynecology: Gynecologic Oncology Source Type: research
slein G Abstract Approximately 3 - 5 % of all colorectal cancers are based on a hereditary predisposition, of which Lynch syndrome is by far the most frequent hereditary cancer syndrome. Beside colorectal cancer Lynch-Syndrome is the most frequent predisposing hereditary cause of endometrial cancer and is also associated with gastric cancer, ovarian cancer, cancer of the urinary tract as well as several other cancers. Genetically Lynch syndrome is caused by a germline mutation in one of the so-called mismatch-repair-genes. Based on several epidemiological studies, increasingly differences in the penetrance o...
Source: Zeitschrift fur Gastroenterologie - Category: Gastroenterology Authors: Tags: Z Gastroenterol Source Type: research
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