Results 11 to 20 of about 21,552 (215)

Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene [PDF]

Human Mutation, 2019
Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2). The diagnosis of LS is often challenged by the identification of missense mutations where the functional ...
Brandon M D'Arcy, Jessa Blount, Aishwarya Prakash   +2 more
exaly   +5 more sources

Recurrent and founder mutations in the PMS2 gene [PDF]

Clinical Genetics, 2013
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom‐designed long‐range PCR strategy now allows adequate mutation detection. Many mutations are unique.
Mark Clendenning, Mark A Jenkins, Joanne Young   +2 more
exaly   +6 more sources

Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers [PDF]

Frontiers in Immunology
ObjectiveIn this study, we systematically compared the microsatellite shift patterns detected by PCR-based microsatellite instability analysis (PCR-MSI) in mismatch repair (MMR)-deficient ECs and analyzed the clinicopathological features associated with ...
Cheng Wang, Cheng Wang, Min Feng, Min Feng, Yuling Kou, Yuling Kou, Wei Kuang, Wei Kuang, Wei Wang, Wei Wang, Dongni Liang, Dongni Liang   +11 more
doaj   +2 more sources

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

Cancer Management and Research, 2019
Raffaella Liccardo,1 Carlo Della Ragione,2 Nunzio Mitilini,2 Marina De Rosa,1 Paola Izzo,1 Francesca Duraturo11Department of Molecular Medicine and Medical Biotechnologies, School of Medicine, University of Naples “Federico II”, Naples, Italy;
Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F   +5 more
doaj   +5 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 ...
Cudia, B., Duraturo, F., Izzo, P., Liccardo, R., Lo Monte, A. I.   +4 more
core   +4 more sources

A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients [PDF]

Obstetrics & Gynecology Science, 2023
Objective To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.
Ala Aiob, Yeo Rae Kim, Kidong Kim, Hyojin Kim, Yong Beom Kim, Duck Woo Kim, Jae Hong No, Soo Hyun Seo, Dong Hoon Suh, Kyoung Un Park   +9 more
doaj   +1 more source

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]

, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi, David T. Kirkpatrick, Irene De Biase, Mark A. Pook, Rebecka L. Bourn, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Sanjay I. Bidichandani   +7 more
core   +17 more sources

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

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

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