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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

Lung Cancer in Patients With Lynch Syndrome: Association or Coincidence?
Clin Lung Cancer. 2023 May 31:S1525-7304(23)00109-2. doi: 10.1016/j.cllc.2023.05.007. Online ahead of print.ABSTRACTLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC) occurs due to microsatellite instability (MSI) caused by mutations in one of the mismatch repair genes leading to deficient mismatch repair proteins (dMMR). Although lung cancer is very common there is no established association between LS and lung cancer. In this manuscript we describe a case of lung cancer in a LS patient and then summarize available literature on this topic. Sixty seven y/o female patient with history of s...
Source: Clinical Colorectal Cancer - June 19, 2023 Category: Cancer & Oncology Authors: Umair Majeed Karan Seegobin Jason Lewis Shenduo Li Yujie Zhao Yanyan Lou Rami Manochakian Source Type: research

Association of cancer with comorbid inflammatory conditions and treatment in patients with Lynch syndrome
CONCLUSION: In patients with LS/HNPCC, the presence of a concurrent inflammatory condition, or use of immunosuppressive medication to treat the inflammatory condition, might not increase the rate of cancer occurrence in this limited study.PMID:35116232 | PMC:PMC8790302 | DOI:10.5306/wjco.v13.i1.49
Source: Clinical Colorectal Cancer - February 4, 2022 Category: Cancer & Oncology Authors: Muhammad S Faisal Carol A Burke David Liska Amy L Lightner Brandie Leach Margaret O'Malley Lisa LaGuardia Benjamin Click J P Achkar Matthew Kalady J M Church Gautam Mankaney Source Type: research

Colorectal cancer patients in a tertiary hospital in Indonesia: Prevalence of the younger population and associated factors
CONCLUSION: Early-onset CRC patients were more likely to have abdominal pain, underweight status, and HNPCC suspicion than late-onset CRC patients.PMID:34877319 | PMC:PMC8610908 | DOI:10.12998/wjcc.v9.i32.9804
Source: Clinical Colorectal Cancer - December 8, 2021 Category: Cancer & Oncology Authors: Dadang Makmun Marcellus Simadibrata Murdani Abdullah Ari F Syam Hamzah Shatri Achmad Fauzi Kaka Renaldi Hasan Maulahela Amanda P Utari Rabbinu R Pribadi Virly N Muzellina Saskia A Nursyirwan Source Type: research

Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?
CONCLUSIONS: Significantly better overall survival and higher rate of metachronous CRC exist in dMMR subgroup of HNPCC patients comparing with pMMR subgroup. Extended colectomy significantly improved DFS and was thus recommended for dMMR subgroup but not pMMR subgroup of HNPCC patients.PMID:34187536 | PMC:PMC8243908 | DOI:10.1186/s13053-021-00186-x
Source: Clinical Colorectal Cancer - June 30, 2021 Category: Cancer & Oncology Authors: Chun-Kai Liao Yueh-Chen Lin Yu-Jen Hsu Yih-Jong Chern Jeng-Fu You Jy-Ming Chiang Source Type: research

Germline deletions in the EPCAM gene as a cause of Lynch syndrome -- literature review.
Abstract Lynch syndrome (clinically referred to as HNPCC -- Hereditary Non-Polyposis Colorectal Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome caused by various germline alterations that affect DNA mismatch repair genes, mainly MLH1 and MSH2. Patients inheriting this predisposition are susceptible to colorectal, endometrial and other extracolonic tumors. It has recently been shown that germline deletions of the last few exons of the EPCAM gene are involved in the etiology of Lynch syndrome. Such constitutional mutations lead to subsequent epigenetic silencing of a neighbourin...
Source: Clinical Colorectal Cancer - August 12, 2013 Category: Cancer & Oncology Authors: Tutlewska K, Lubinski J, Kurzawski G Tags: Hered Cancer Clin Pract Source Type: research