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A Novel Mutation of < em > MSH2 < /em > Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies
J Clin Med. 2023 Aug 24;12(17):5502. doi: 10.3390/jcm12175502.ABSTRACTLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2-3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the MLH1, MSH2 (EPCAM), MSH6, and PMS2 genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgica...
Source: Clinical Colorectal Cancer - September 9, 2023 Category: Cancer & Oncology Authors: Ugne Silinskaite Edita Gavelien ė Rokas Stulpinas Ramunas Janavicius Tomas Poskus Source Type: research
Cancers, Vol. 15, Pages 3930: Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice
ndro Tagliaferri
Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is an autosomal dominant cancer syndrome which causes about 2&ndash;3% of cases of colorectal carcinoma. The development of LS is due to the genetic and epigenetic inactivation of genes involved in the DNA mismatch repair (MMR) system, causing an epiphenomenon known as microsatellite instability (MSI). Despite the fact that the genetics of the vast majority of MSI-positive (MSI+) cancers can be explained, the etiology of this specific subset is still poorly understood. As a possible new mechanism, it has been...
Source: Cancers - August 2, 2023 Category: Cancer & Oncology Authors: Serena Ascrizzi Grazia Maria Arillotta Katia Grillone Giulio Carid à Stefania Signorelli Asad Ali Caterina Romeo Pierfrancesco Tassone Pierosandro Tagliaferri Tags: Review Source Type: research
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Conclusion
Our data show that CAPLRseq is an automatable and adaptable workflow for effective transcriptome-based identification of disease variants in a clinical diagnostic setting.
Source: Journal of Medical Genetics - July 21, 2023 Category: Genetics & Stem Cells Authors: Schwenk, V., Leal Silva, R. M., Scharf, F., Knaust, K., Wendlandt, M., Häusser, T., Pickl, J. M. A., Steinke-Lange, V., Laner, A., Morak, M., Holinski-Feder, E., Wolf, D. A. Tags: Open access Cancer genetics Source Type: research
Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger
CONCLUSIONS: Although rare overall, a significant proportion of younger patients with MLH1-methylated CRC had underlying constitutional MLH1 methylation. Routine testing for this high-risk mechanism is warranted in patients aged ≤55 years for a timely and accurate molecular diagnosis that will significantly alter their clinical management while minimizing additional testing.PMID:37433431 | DOI:10.6004/jnccn.2023.7020
Source: Journal of the National Comprehensive Cancer Network : JNCCN - July 11, 2023 Category: Cancer & Oncology Authors: Megan P Hitchins Estela D ámaso Rocio Alvarez Lisa Zhou Yajing Hu Marcio A Diniz Marta Pineda Gabriel Capella Rachel Pearlman Heather Hampel Source Type: research
