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Total 35 results found since Jan 2013.

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 353: Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations
John Souglakos MMR gene germline mutations are considered a major genetic disorder in patients with hereditary nonpolyposis colon cancer (HNPCC) or Lynch syndrome; A total of 15% of sporadic colon carcinomas are MSI-High. MSI has also been observed in other cancers, such as endometrial, gastric, and ovarian cancer. The aim of the current study was to correlate and outline the optimal method between the molecular testing of the instability of microsatellite DNA regions (MSI status) and the loss of protein expression by immunehistochemistry (MMR). A total of 242 paraffin-embedded tissues from gastrointestinal, gynecol...
Source: Cancers - January 5, 2023 Category: Cancer & Oncology Authors: Maria Sfakianaki Maria Tzardi Konstantina Tsantaki Chara Koutoulaki Ippokratis Messaritakis Galateia Datseri Eleni Moustou Dimitrios Mavroudis John Souglakos Tags: Article Source Type: research

Lynch syndrome: An unusal case of familial cancer unearthed
Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):465-467. doi: 10.4103/IJPM.IJPM_809_19.ABSTRACTLynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a type of inherited cancer syndrome with a genetic predisposition to different types of cancer. There is an increased predisposition to cancers in the endometrium, colon, stomach, ovary, uterus, skin, kidney, and brain in patients of Lynch syndrome. We are reporting a 48-year-old male who presented with a pea-sized growth in his left arm which was found to be sebaceoma on histopathology. On further detailed history, examination, and genetic study, it was proved ...
Source: Indian Journal of Pathology and Microbiology - April 18, 2022 Category: Pathology Authors: Subhra Dhar Ashraf U Mannan J Jaya Singh Sandipan Dhar Swetalina Pradhan Source Type: research