Results 41 to 50 of about 23,834 (214)

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. [PDF]

PLoS Genetics, 2017
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele   +10 more
doaj   +1 more source

THE IMMUNOHISTOCHEMICAL EXPRESSIONS OF MISMATCH REPAIR GENES MLH1, PMS2, MSH6, MSH2 IN GASTRIC CANCER; A TISSUE MICROARRAY STUDY

Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi, 2021
ObjectiveWe aimed to evaluate the correlation between theimmunohistochemical expressions of MLH1, PMS2,MSH6, MSH2 and clinicopathological parameters ingastric carcinoma.Matherials and MethodsImmunohistochemistry was performed on the tissuemicroarray (TMA)
Gamze Erkılınç, Nermin Karahan, Şirin Başpınar, Zümrüt Arda Kaymak, Şehnaz Evrimler   +4 more
doaj   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

Mismatch repair gene MSH6 correlates with the prognosis, immune status and immune checkpoint inhibitors response of endometrial cancer

Frontiers in Immunology
ObjectiveMany patients treated with immune checkpoint inhibitors (ICIs) developed primary or secondary drug resistance for unknown reasons. This study investigates whether mismatch repair (MMR) genes are responsible for this therapeutic restriction ...
Lin-Zhi Zhou, Hong-Qi Xiao, Jie Chen
doaj   +1 more source

Down-regulation of MSH3 and MSH6 genes in female breast cancer patients receiving taxane-based therapy

Future Journal of Pharmaceutical Sciences, 2023
Background The DNA in each cell in our body is constantly in danger of becoming damaged. Most DNA damage gets repaired straight away via many different proteins encoded by DNA—repair genes.
Hanaa R. M. Attia, Dina F. Ayoub, Shereen H. Abd El-Aziz, Mai M. Abdel Wahed, Safa N. Abd El-Fattah, Mahmoud A. Abdel-Monem, Thanaa M. Rabah, Mahmoud M. Kamel, Amany Helal, Mona Hamed Ibrahim   +9 more
doaj   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source

Análise do gene MSH6 em pacientes com síndrome de Lynch [PDF]

, 2015
Entre as síndromes hereditárias de predisposição ao câncer colorretal a Síndrome de Lynch é a síndrome mais frequente, sendo causada por mutações germinativas em um dos principais genes envolvidos na via de reparo de mau pareamento do DNA (MMR): MLH1 ...
Schneider, Nayê Balzan
core   +1 more source

A Biofabricated Human Acinus‐on‐a‐Chip Unveils Mechanotransductive Drivers of Ventilator‐Induced Lung Injury via Decoupling Volutrauma and Barotrauma

Advanced Science, EarlyView.
This bioinspired acinus‐on‐a‐chip recapitulates VILI pathology, revealing that volutrauma drives P53/NF‐κB pathways while barotrauma triggers mitochondrial‐Wnt dysregulation. A fibrotic transitional cell cluster was identified. Pharmacological interventions targeting these pathways significantly ameliorated injury, establishing a mechanobiological ...
Heng Lu, Liansheng Liu, Zengyong Hu, Shuxian Fang, Ruohan Ren, Sidi Liu, Meng Zhao, Zhiting Luo, Ziyue Zhang, Wenlong Shao, Qian Liu   +10 more
wiley   +1 more source

Biochemical Analysis of the Human Mismatch Repair Proteins hMutSα MSH2G674A-MSH6 and MSH2-MSH6T1219D [PDF]

Journal of Biological Chemistry, 2012
The human MutSalpha protein, a heterodimer between MSH2 and MSH6, initiates DNA mismatch repair (MMR) by recognizing mismatched bases that result from replication errors. Msh2 G674A or Msh6
Hui, Geng, Miho, Sakato, Vanessa, DeRocco, Kazuhiko, Yamane, Chunwei, Du, Dorothy A, Erie, Manju, Hingorani, Peggy, Hsieh   +7 more
openaire   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source