Results 21 to 30 of about 2,530,443 (206)

The Initiation and Progression of Neoplasia in Inherited and Sporadic Colorectal Cancer. [PDF]

, 2009
PhDThis dissertation describes investigations into aspects of neoplastic initiation and progression in the gut, in the context of inherited and sporadic gastrointestinal cancer. In familial adenomatous polyposis, there is marked locoregional variation
Will, Olivia Constance Claire
core   +4 more sources

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review

BMC Medical Genomics, 2023
Background Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accurate diagnosis is challenging when a
Shumpei Onishi, Fumiyuki Yamasaki, Kazuya Kuraoka, Akira Taguchi, Takeshi Takayasu, Kiwamu Akagi, Takao Hinoi   +6 more
doaj   +1 more source

PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene

Genes, Chromosomes and Cancer, 2023
AbstractPMS2 germline pathogenic variants are one of the major causes for Lynch syndrome and constitutional mismatch repair deficiencies. Variant identification in the 3′ region of this gene is complicated by the presence of the pseudogene PMS2CL which shares a high sequence homology with PMS2.
Ahmed Bouras, Cedrick Lefol, Eric Ruano, Chloé Grand‐Masson, Qing Wang   +4 more
openaire   +2 more sources

Expression of MMR in 515 cases of endometrioid adenocarcinoma and its correlation with clinicopathological features [PDF]

Zhongguo aizheng zazhi, 2022
Background and purpose: Lynch syndrome associated endometrial carcinoma has unique clinicopathological features and treatment methods. The detection of mismatch repair (MMR) protein expression by immunohistochemical (IHC) staining in patients with newly ...
WU Quan, GUO Jingwei, LEI Yuxin, HU Xiaoru, WANG Zhe
doaj   +3 more sources

Involvement of large rearrangements in MSH6 and PMS2 genes in southern Italian patients with Lynch syndrome [PDF]

, 2018
Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes. Most of germline mutations are point variants, followed by large rearrangements that account to 15-55% of all pathogenic mutations. Many study reporting the frequency of large rearrangements in the MLH1 and MSH2 genes
Lo Monte A. I., Cudia B., Liccardo R., Izzo P., Duraturo F.   +4 more
openaire   +3 more sources

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

Frontiers in Genetics, 2022
Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2.
Quanli Han, Si Liu, Zhi Cui, Qi Wang, Tonghui Ma, Liwen Jiang, Xiaomo Li, Guanghai Dai   +7 more
doaj   +1 more source

A POLE P286R-Mutated Hepatoid Adenocarcinoma of the Lung Showing Substantial Response to Immune Checkpoint Inhibition. [PDF]

Cancer Rep (Hoboken)
ABSTRACT Background Hepatoid adenocarcinoma of the lung (HAL) is a rare form of lung cancer with histological and morphological properties of hepatocellular carcinoma, characterized by an aggressive course of the disease and unfavorable prognosis. Given the rarity of the pathology and the lack of unambiguous therapeutic protocols, descriptions of ...
Chernev A, Kaurtseva A, Abasov R, Enikeev R, Gegelia N, Abdrakova G, Usman N, Druy A, Raskin G.   +8 more
europepmc   +2 more sources

Clinicopathological, Immunohistochemical, and PMS2 Gene Expression Profiling of Patients with Sporadic Colorectal Cancer [PDF]

Archives of Iranian Medicine, 2021
Background: The DNA mismatch repair (MMR) system is one of the molecular pathways involved in colorectal cancer (CRC) carcinogenesis that consists of several genes, including MLH1 (MutL homolog 1), MSH6 (MutS homolog 6), MSH2 (MutS homolog 2), and MSH3 (MutS homolog 3).
Maryam Mousavi, Mohammad Taghi Goodarzi, Seyed Mehrdad Kassaee, Ali Jafari Heidarloo, Mojtaba Fathi   +4 more
openaire   +2 more sources

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression. [PDF]

PLoS Genetics, 2008
DNA mismatch repair suppresses gastrointestinal tumorgenesis. Four mammalian E. coli MutL homologues heterodimerize to form three distinct complexes: MLH1/PMS2, MLH1/MLH3, and MLH1/PMS1.
Peng-Chieh Chen, Mari Kuraguchi, John Velasquez, Yuxun Wang, Kan Yang, Robert Edwards, Dan Gillen, Winfried Edelmann, Raju Kucherlapati, Steven M Lipkin   +9 more
doaj   +1 more source