Lynch Syndrome Studies Highlight Screening, Surveillance Opportunities

Two studies on Lynch syndrome highlight cancer screening and surveillance opportunities.
Source: CancerNetwork - Category: Cancer & Oncology Authors: Tags: Colorectal Cancer Endometrial Cancer Gastrointestinal Cancer Gynecologic Cancers News Ovarian Cancer Source Type: news

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In conclusion, somatic mutational signatures suggest that conventional MMR status of tumor tissues is likely to underestimate the significance of the predisposing MMR defects as contributors to breast tumorigenesis in LS. PMID: 32292574 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Mismatch repair deficiency (MMRD) is involved in the initiation of both hereditary and sporadic tumors. MMRD has been extensively studied in colorectal cancer and endometrial cancer, but not so in other tumors, such as ovarian carcinoma. We have determined the expression of mismatch repair proteins in a large cohort of 502 early-stage epithelial ovarian carcinoma entailing all the 5 main subtypes: high-grade serous carcinoma, endometrioid ovarian carcinoma (EOC), clear cell carcinoma (CCC), mucinous carcinoma, and low-grade serous carcinoma. We studied the association of MMRD with clinicopathologic and immunohistochemical ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Abstract About 5% of colorectal cancer (CRC) cases occurred in the context of an underlying hereditary predisposition syndrome. Lynch syndrome is the main causes of hereditary CRC but is also associated with a higher risk of other cancers (such as endometrial cancer and ovarian cancer). It is the consequence of constitutional mutation in a MisMatch Repair (MMR) gene, involved in DNA repair: MLH1, MSH2, MSH6 or PMS2; or of the EPCAM gene (MSH2 promotor). If a mutation predisposing to Lynch Syndrome is identified in an individual, special monitoring should be initiated, adapted to estimated cancer risk. Clinical cri...
Source: Presse Medicale - Category: General Medicine Authors: Tags: Presse Med Source Type: research
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...
Source: Journal of Visceral Surgery - Category: Surgery Source Type: research
ConclusionsThe data suggest that feeling efficacious about managing one ’s Lynch syndrome and screening is related to positive interactions and communication with one’s family physician. While this is encouraging, future research should examine educating both family physicians and patients about current guidelines for Lynch syndrome gynecological screening recommend ations.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Lynch Syndrome (LS) is a dominantly inherited condition with incomplete penetrance, characterized by high predisposition to colorectal cancer (CRC), endometrial and ovarian cancers, as well as to other tumors. LS is associated with constitutive DNA mismatch repair (MMR) gene defects, and carriers of the same pathogenic variants can show great phenotypic heterogeneity in terms of cancer spectrum. In the last years, human gut microbiota got a foothold among risk factors responsible for the onset and evolution of sporadic CRC, but its possible involvement in the modulation of LS patients’ phenotype still needs to be inv...
Source: Frontiers in Microbiology - Category: Microbiology Source Type: research
This review is an appraisal of the current state of knowledge of 2 enigmatic histotypes of ovarian carcinoma: endometrioid and clear cell carcinoma. Both show an association endometriosis and the hereditary nonpolyposis colorectal cancer (Lynch) syndrome, and both typically present at an early stage. Pathologic and immunohistochemical features that distinguish these tumors from high-grade serous carcinomas, each other, and other potential mimics are discussed, as are staging, grading, and molecular pathogenesis.
Source: Surgical Pathology Clinics - Category: Pathology Authors: Source Type: research
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is an established test to identify Lynch syndrome (LS) in patients with colorectal cancer and is being increasingly used to identify LS in women with endometrial and/or nonserous ovarian cancer (OC). We assessed interobserver agreement in the interpretation of MMR-IHC on endometrial and ovarian carcinomas. The study consisted of 73 consecutive endometrial cancers (n=48) and nonserous, nonmucinous epithelial OCs (n=25). Six pathologists from 2 cancer centers, one with and the other without, previous experience in interpreting MMR-IHC, evaluated MLH1, MSH2, MSH6, ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Consumer genetics company 23andMe is diving deeper into the medical space. On Jan. 22, the company announced that the Food and Drug Administration (FDA) approved its newest report, which can flag whether people have genetic variants that may raise their risk of developing colorectal cancer. The new test looks for two gene variants associated with MUTYH-associated polyposis, an inherited colorectal cancer syndrome. “If left unchecked, carrying both of these variants or having two copies of one increases the risk of developing colorectal cancer to between 43 and 100 percent,” according to 23andMe. The test will b...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Cancer healthytime Source Type: news
ConclusionsOur data suggest the spectrum of genotyped mutations in AJ BC patients with a personal or family history of LS-related cancers should be expanded. These data should be validated in other populations with a similar phenotype.
Source: Cancer Causes and Control - Category: Cancer & Oncology Source Type: research
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