Results 81 to 90 of about 23,834 (214)

Gliomas with pleomorphic and pseudopapillary features (GPAP) are circumscribed tumors with targetable mutations, prolonged survival, and frequent tumor predisposition

Brain Pathology, EarlyView.
DNA methylation profiling identifies GPAP as a distinct circumscribed glioma with a characteristic expansive, multicystic radiological appearance, pleomorphic and pseudopapillary histology, a recognizable CNV profile, druggable molecular alterations, and recurrent cancer predisposition syndromes.
Alberto Picca, Valeria Barresi, Aude Trinquet, Luca Bertero, Lucia Nichelli, Guillaume Chotard, Michèle Bernier, Thomas Gareau, Salah Eddine Oussama Kacimi, Jaydutt Bhalshankar, Mathilde Filser, Julien Masliah‐Planchon, Marta Iollo, Henri Malaize, Bertrand Mathon, Luc Bauchet, Kifah Khouri, Besma Barka, Hélène Madry, Sabrina Rossi, Evelina Miele, Giuseppe Kenneth Ricciardi, Catherine Carpentier, Irina Coin, Marc Sanson, Mehdi Touat, Caroline Dehais, Alessia Pellerino, Roberta Rudà, Paola Cassoni, Valérie Rigau, Emmanuelle Uro‐Coste, Karima Mokhtari, Ahmed Idbaih, Patrick R. Benusiglio, Franck Bielle   +35 more
wiley   +1 more source

Preimplantation genetic testing for monogenic disorders to prevent MSH6 germline pathogenic variant related colorectal cancer

BMC Cancer
Background Colorectal cancer (CRC) is the third most deadly cancer in the world, accounting for approximately 10% of all cancer diagnoses and cancer-related deaths worldwide each year.
Wenhua Wang, Zheng Zhou, Xi Cheng, Li Chen, Jun Jing, Chao Chen, Jie Dong, Hui Chen, Jinzhao Ma, Bing Yao   +9 more
doaj   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Functional Overlap in Mismatch Repair by Human MSH3 and MSH6

Genetics, 1998
Abstract Three human genes, hMSH2, hMSH3, and hMSH6, are homologues of the bacterial MutS gene whose products bind DNA mismatches to initiate strand-specific repair of DNA replication errors. Several studies suggest that a complex of hMSH2·hMSH6 (hMutSα) functions primarily in repair of base·base mismatches or single extra bases, whereas
A, Umar, J I, Risinger, W E, Glaab, K R, Tindall, J C, Barrett, T A, Kunkel   +5 more
openaire   +3 more sources

Compromised DNA replication in gut cells underlies sensitivity to genotoxic stress in the tardigrade Hypsibius exemplaris

The FEBS Journal, EarlyView.
DNA damage in the tardigrade Hypsibius exemplaris elicits distinct cellular outcomes depending on replication status. While non‐replicating cells tolerate genotoxic stress, constitutively replicating cells undergo irreversible replication failure upon DNA damage, leading to loss of tissue homeostasis, fat depletion, sterility, and organismal death ...
Gonzalo Quiroga‐Artigas, Pauline Fontanié, Benjamin Lacroix, Maria Dolores Molina, María Moriel‐Carretero   +4 more
wiley   +1 more source

Penetrance and Expressivity of MSH6 Germline Mutations in Seven Kindreds Not Ascertained by Family History [PDF]

, 2004
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by inherited mutations in DNA mismatch-repair genes, most commonly MLH1 or MSH2. The role MSH6 plays in inherited cancer susceptibility is less well defined.
Edmonston, Tina Bocker, Babb, Sheri A., Herzog, Thomas J., Gibb, Randall K., Rader, Janet S., Whelan, Alison J., Buttin, Barbara M., Powell, Matthew A., Mutch, David G., Huettner, Phyllis C., Goodfellow, Paul J.   +10 more
core   +1 more source

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

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

Generation of Msh6^mut/- heterozygous ESC lines.

, 2013
(A) Southern blot analysis of the Msh6mut/- and control cell lines, showing loss of one of the Msh6 alleles in Msh6mut/- cells. (B and C) Western blot analysis of mutant Msh6 homozygous and heterozygous cell lines and controls.
Gözde Isik (397496), Eva A. L. Wielders (456951), Hellen Houlleberghs (456952), Hein te Riele (22461)   +3 more
core   +1 more source

Več obrazov sindroma Lynch: odkrivanje zarodnih mutacij v genu MSH6 [PDF]

, 2013
The Department of Molecular Diagnostics at the Institute of Oncology Ljubljana has introduced testing of germ-line mutations in the MSH6 gene. Mutations in this gene are associated with the Lynch syndrome and represent an increased likelihood for the ...
Novaković, Srdjan, Prosenc, Uršula
core   +1 more source