Results 91 to 100 of about 2,530,443 (206)

Immunohistochemical Characterisation of Mismatch Repair Proteins in Feline Cancers: A Pilot Study Using Validated Cross‐Reactive Antibodies

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT DNA mismatch repair (MMR) deficiency is a clinically important biomarker in human oncology, yet its relevance in feline neoplasia remains poorly understood due to limited characterisation and the absence of validated reagents. In this study, we established a practical immunohistochemistry (IHC) approach for evaluating feline MMR proteins by ...
Shoma Nishibori, Masashi Sakurai, Yumiko Kagawa, Kazuo Nishigaki, Takayuki Nakagawa, Sakuya Inanaga, Masaya Igase, Takuya Mizuno   +7 more
wiley   +1 more source

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

, 2005
Background & Aims: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder caused by familial mutations in some of the genes responsible for DNA mismatch repair. Mutations in the MLH1, MSH2, and MSH6 genes have been documented
Worthley, D., Suthers, G., Ruszkiewicz, A., Barker, M., Bennett, G., Walsh, M., Phillips, K.   +6 more
core   +1 more source

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants

Hereditary Cancer in Clinical Practice
Background In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers in carriers ...
Wenche Sjursen, Hanne K. Hyldebrandt, Liss Anne S. Lavik, Bjørn Ivar Haukanes, Sarah Ariansen, Siri Briskemyr, Anna E. Sylvander, Marianne T. Haavind, Maren F. Olsen, Elin S. Røyset, Hildegunn Vetti, Astrid Stormorken, Eli Marie Grindedal   +12 more
doaj   +1 more source

Genomic Organization of the HumanPMS2Gene Family

Genomics, 1995
The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form. We have here characterized the genomic structure of the hPMS2 gene to facilitate its analysis in HNPCC kindreds. The hPMS2 genomic locus was found to encompass 16 kb and consist of 15 exons.
N C, Nicolaides, K C, Carter, B K, Shell, N, Papadopoulos, B, Vogelstein, K W, Kinzler   +5 more
openaire   +2 more sources

MET Expression in Upper Gastrointestinal Adenocarcinoma: Prevalence, Prognostic Impact, and Implications for Anti‐MET Antibody‐Drug Conjugate Therapy

International Journal of Cancer, Volume 159, Issue 10, Page 2606-2618, 15 November 2026.
ABSTRACT MET is an actionable receptor tyrosine kinase, and MET‐directed antibody–drug conjugates (ADCs) have recently entered clinical practice with FDA approval in non‐small cell lung cancer and are now being evaluated across gastrointestinal malignancies, with patient selection based on MET immunohistochemistry (IHC) 3+ membranous staining at ...
Tillmann Bedau, Thomas Zander, Hans Anton Schlößer, Hakan Alakus, Onur Mustafov, Reinhard Büttner, Christiane Bruns, Alexander Quaas   +7 more
wiley   +1 more source

Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome

International Journal of Cancer, Volume 159, Issue 10, Page 2585-2594, 15 November 2026.
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin, Dong Keon Kim, Yoojeong Seo, Hyeon Hee Lee, Jihye Park, Soo Jung Park, Jae Jun Park, Jae Hee Cheon, Jongwon Oh, Sanghoo Lee, Tae Il Kim   +10 more
wiley   +1 more source

PMS2 Involvement in Patients Suspected of Lynch Syndrome

, 2009
It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families.
Niessen, Renee C., Westers, Helga, Hollema, Harry, Sijmons, Rolf H., Westers, Helga; id_orcid, Bos, Krista K.; id_orcid, Boersma-van Ek, Wytske, Jager, Paul O. J., Rozeveld, Dennie, Hofstra, Robert M. W., Kleibeuker, Jan H., Bos, Krista K.   +11 more
core   +1 more source

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome [PDF]

, 2004
We investigated a family with an autosomal recessive syndrome of café-au-lait patches and childhood malignancy, notably supratentorial primitive neuroectodermal tumor. There was no cancer predisposition in heterozygotes; nor was there bowel cancer in any
Bonthron, David T., David T. Bonthron, Bruce E. Hayward, Sheridan, Eamonn, Eamonn Sheridan, De Vos, Michel, Susan Picton, Hayward, Bruce E., Michel De Vos, Picton, Susan   +9 more
core   +1 more source

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

Neurobiology of Disease, 2012
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene.
Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein te Riele, Mark A. Pook   +6 more
doaj   +1 more source

CRISPR‐based therapeutic and modelling approaches in Huntington's disease: Progress, challenges and future directions

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Clustered regularly interspaced short palindromic repeat (CRISPR) is transforming Huntington's disease research through allele‐selective huntingtin (HTT) targeting, transcriptional and RNA suppression, and advanced disease modelling. Progress towards precision therapy depends on safe central nervous system (CNS) delivery, reduced off‐target and immune ...
Kairat Zhakipbekov, Surayyo Eshkabilova, Zokir Raximov, Sharof Eshonov, Abdusaid Khasanov, Ziyodulla Tokhtamurod, Axmadjan Ashurmetov, Avazbek Abduraxmanov, Niyozbek Abdurakhmonov, Elmurod Eshqobilov, Seyed Mohsen Mirhosseini, Amir Arsalan Ghahari   +11 more
wiley   +1 more source