Test All Patients With MSI Tumors for Lynch Syndrome Test All Patients With MSI Tumors for Lynch Syndrome

Tumors that have high microsatellite instability are more likely to be linked to Lynch syndrome; this includes tumors that have not been previously associated with the syndrome.Medscape Medical News
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Hematology-Oncology News Source Type: news

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Authors: Peltomäki P, Olkinuora A, Nieminen TT Abstract INTRODUCTION: Up to one third of colorectal cancers show familial clustering and 5% are hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises DNA mismatch repair-deficient and -proficient subsets, represented by Lynch syndrome (LS) and familial colorectal cancer type X (FCCTX), respectively. Accurate knowledge of molecular etiology and genotype-phenotype correlations are critical for tailored cancer prevention and treatment. AREAS COVERED: The authors highlight advances in the molecular dissection of hereditary non-pol...
Source: Expert Review of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research
Conditions:   Hereditary Breast and Ovarian Cancer;   Lynch Syndrome Intervention:   Other: Families Accelerating Cascade Testing Toolkit Sponsors:   Washington University School of Medicine;   Barnes-Jewish Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
mon y Cajal Alexandra Gisbert-Beamud Joaquin Cubiella Laura Rivas Maite Herraiz Catalina Garau Inmaculada Salces Marta Carrillo-Palau Luis Bujanda Adriá López-Fernández Cristina Alvarez-Urturi María Jesús López Cristina Alenda Pedro Zapater Francisco Javier Lacueva Francesc Balaguer Jose-Luis Soto Óscar Murcia Rodrigo Jover Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). We compared...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractA cancer diagnosis is suggested to be associated with changes in dietary and lifestyle habits. Whether this applies to persons with familial cancer, such as Lynch syndrome (LS) is unknown. We investigated whether a colorectal neoplasm (CRN) diagnosis in persons with LS is associated with changes in dietary and lifestyle habits over time. We used data of confirmed LS mutation carriers from the GEOLynch study, a prospective cohort study. Information on dietary intake and lifestyle habits was collected with a validated semi-quantitative food frequency questionnaire and a general questionnaire administered at baseline ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Authors: Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A Abstract BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li-Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz-Jeghers ...
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
CONCLUSIONS: There is widespread variation in the services offered to women with LS in the UK. As a community, gynaecological oncologists should move towards a nationally agreed provision of services. PMID: 32725920 [PubMed - as supplied by publisher]
Source: BJOG : An International Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: BJOG Source Type: research
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contribution of splicing assay data to the classification of MMR gene sequence variants. We assayed mRNA splicing for 24 sequence variants in MLH1, MSH2, and MSH6, including 12 missense variants that were also assessed using a cell-free in vitro MMR activity (CIMRA) assay. Multifactorial likelihood analysis was conducted for each variant, combining CIMRA outputs and clinical data wher...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionThe implementation of universal screening in a publicly funded system will increase efficiency in detecting patients with LS. The resources available for genetic testing and counseling may be more limited in public systems, thus inclusion of secondary screening withBRAF andMLH1 promoter hypermethylation testing is key to further optimizing efficiency.
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
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