Results 11 to 20 of about 2,530,443 (206)

An Integrated Clinical, Germline, Somatic, and In Silico Approach to Assess a Novel PMS2 Gene Variant Identified in Two Unrelated Lynch Syndrome Families [PDF]

Cancers
Background: Lynch syndrome (LS) is an autosomal dominant disease caused by germline pathogenic variants in one of the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) or the EPCAM gene. LS patients harboring genetic variants in one of the MMR
Martina Lepore Signorile, Anna Maria Valentini, Raffaele Armentano   +2 more
exaly   +3 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.
Tomsic, J, Senter, L, Liyanarachchi, S, Clendenning, M, Vaughn, CP, Jenkins, MA, Hopper, JL, Young, J, Samowitz, W, de la Chapelle, A   +9 more
openaire   +4 more sources

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells [PDF]

Oncotarget, 2015
DNA mismatch repair (MMR) enzymes act as proofreading complexes that maintains genomic integrity and MMR-deficient cells show an increased mutation rate. MMR has also been shown to influence cell signaling and the regulation of tumor development. MMR consists of various genes and includes post-meiotic segregation (PMS) 2 which is a vital component of ...
Shinichiro, Fukuhara, Inik, Chang, Yozo, Mitsui, Takeshi, Chiyomaru, Soichiro, Yamamura, Shahana, Majid, Sharanjot, Saini, Guoren, Deng, Ankurpreet, Gill, Darryn K, Wong, Hiroaki, Shiina, Norio, Nonomura, Yun-Fai C, Lau, Rajvir, Dahiya, Yuichiro, Tanaka   +14 more
core   +7 more sources

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis [PDF]

Cell, 1995
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 is involved in DNA mismatch repair in a variety of tissues.
Baker, S.M., Bonner, C.E., Zhang, L., Plug, A.W., Robatzek, M., Warren, G., Elliott, E.A., Yu, J., Ashley, T., Arnheim, N., Flavell, R.A., Liskay, R.M.   +11 more
openaire   +4 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

Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort [PDF]

Frontiers in Oncology
BackgroundLynch syndrome is the leading hereditary cause of colorectal and endometrial cancers, but data on germline mutations in the Indian population are insufficient. This study assessed patients with Lynch syndrome-related tumors using tumor mismatch
Himanshi Diwan, Anurag Mehta, Saudamini Sharma, Sakshi Mattoo, Shalini Agnihotri   +4 more
doaj   +2 more sources

Analysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma [PDF]

Discover Oncology
DNA mismatch repair (MMR)/microsatellite instability (MSI) status is an indispensable biomarker for predicting immunotherapy response, screening for Lynch syndrome (LS), and molecularly classifying endometrial carcinoma (EC).
Na-Mei Li, Hai-Peng Cheng, Peng Zhou, Xiao-Hong Li   +3 more
doaj   +2 more sources

Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis [PDF]

Hereditary Cancer in Clinical Practice
Immune checkpoint inhibitors (ICIs) have transformed outcomes in microsatellite instability-high (MSI-H) deficient mismatch repair (dMMR) cancers. The influence of germline MMR gene variants on ICI remains unclear.
Antoine Dardenne, Camille Loisel, Anna Pellat, Alexandre Perrier, Julie Metras, Thomas Samaille, Yann Parc, Julie Leclerc, Romain Cohen, Thierry André   +9 more
doaj   +2 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

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer. [PDF]

Cancer Manag Res, 2019
Background: Lynch syndrome is associated with genetic variants in mismatch repair (MMR) genes. Pathogenic variants in the MLH1 and MSH2 genes occur in most families in which the phenotype is highly penetrant.
Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F.   +5 more
europepmc   +2 more sources