Results 111 to 120 of about 29,501 (185)

1,2-dimethylhydrazine-induced colon carcinoma and lymphoma in msh2(-/-) mice

, 2001
Background. Defective mismatch repair (MMR) in humans is particularly associated with familial colorectal cancer, but defective repair in mice is generally associated with lymphoma. in the absence of experimental exposure to carcinogens. Loss of MMR also
Fiumicino S, Potten CS, Crescenzi M, Macri C, Colussi C, Giuliani A, Musiani P, Bignami M, Rosini S   +8 more
core  

Unveiling the molecular profile of adenosquamous gallbladder carcinoma: characterization of a Caucasian cohort

Histopathology, Volume 89, Issue 3, Page 442-455, September 2026.
GBASCs are MMRp tumours, exhibiting minimal HER2 overexpression and elevated PD‐L1 expression compared to adenocarcinomas. Especially in metastatic and TP53‐wild type tumours, GBASCs can express CLDN18, albeit limited to the glandular component. Their genomic profile resembles that of adenocarcinomas with an enrichment in alterations on PIK3CA, PTEN ...
Jessica Gasparello, Valentina Angerilli, Mario Domenico Rizzato, Edoardo Maffii, Carlotta Ceccon, Matilde Callegarin, Marianna Sabbadin, Monia Niero, Luisa Toffolatti, Francesca Bergamo, Paola Parente, Luca Mastracci, Federica Grillo, Alessandro Vanoli, Paola Mattiolo, Claudio Luchini, Angelo Paolo Dei Tos, Umberto Cillo, Giacomo Zanus, Sara Lonardi, Matteo Fassan   +20 more
wiley   +1 more source

Ubiquitination of the DNA Mismatch Repair Protein Msh2

, 2012
MSH2 is required for DNA mismatch repair recognition in eukaryotes. Deleterious mutations in human MSH2 account for approximately half of the alleles associated with a common hereditary cancer syndrome.
Arlow, Tim
core  

Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient

Frontiers in Medicine
BackgroundCYLD cutaneous syndrome (CCS) is a rare autosomal dominant disorder caused by germline CYLD variants and characterized by multiple skin adnexal tumors.
Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maritza Quishpe, Rosa Pacheco, Skehirly Burgos-Tapia, Ana Karina Zambrano, Alejandro Cabrera-Andrade   +6 more
doaj   +1 more source

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia

Epigenetics & Chromatin
Background Repeat-induced epigenetic changes are observed in many repeat expansion disorders (REDs). These changes result in transcriptional deficits and/or silencing of the associated gene.
Jessalyn Grant-Bier, Kathryn Ruppert, Bruce Hayward, Karen Usdin, Daman Kumari   +4 more
doaj   +1 more source

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

Frontiers in Genetics
BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Genetic counseling is crucial for the prevention and treatment of LS, as individuals with these mutations have an increased lifetime ...
Lan Zhong, Lan Zhong, Wenxiang Wang, Wenxiang Wang, Wenxiang Wang, Yuanqiong Duan, Yuanqiong Duan, Liang Song, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Yin, Rutie Yin   +13 more
doaj   +1 more source

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome–associated MSH2-deficient endometrial cancer

JCI Insight
Lynch syndrome (LS), caused by inherited mutations in DNA mismatch repair genes, including MSH2, carries a 60% lifetime risk of developing endometrial cancer (EC). Beyond hypermutability, mechanisms driving LS-associated EC (LS-EC) remain unclear.
Mikayla Borthwick Bowen, Brenda Melendez, Qian Zhang, Diana Moreno, Leah Peralta, Wai Kin Chan, Collene Jeter, Lin Tan, M. Anna Zal, Philip L. Lorenzi, Kenneth Dunner Jr., Richard K. Yang, Russell R. Broaddus, Joseph Celestino, Nisha Gokul, Elizabeth Whitley, Deena M. Scoville, Tae Hoon Kim, Jae-Wook Jeong, Rosemarie Schmandt, Karen Lu, Hyun-Eui Kim, Melinda S. Yates   +22 more
doaj   +1 more source

The Intersection of Lynch Syndrome and Hematological Malignancies: A Rare Short Report

eJHaem
Lynch syndrome (LS), which is an autosomal dominant disorder caused primarily by germline pathogenic variants of mismatch repair (MMR) genes, cases a number of malignancies. Hematologic malignancies are not included as related tumors of LS because it has
Tomomi Oka, Takeshi Nakajima, Makoto Iwasaki, June Takeda, Masako Torishima, Maki Sakurada, Takuya Shimizu, Takero Shindo, Masakazu Fujimoto, Shinya Otsuki, Hironori Haga, Kokichi Sugano, Miho Ando, Chisaki Mizumoto, Junya Kanda, Yasuhito Nannya, Seishi Ogawa, Akifumi Takaori‐Kondo, Shinji Kosugi   +18 more
doaj   +1 more source

The Role of the <i>Msh2</i> Mismatch Repair Gene in the <i>Prdm9</i>-Driven Hybrid Male Sterility in the House Mouse. [PDF]

Genes (Basel)
Fusek K, Jansa P, Forejt J.
europepmc   +1 more source

Durable response to dual immune checkpoint blockade in Lynch syndrome-associated serous ovarian carcinoma: a case report. [PDF]

Front Med (Lausanne)
Mourad M, Assaf N, Al Mahmasani L, Mahfouz R, Fakhruddin N, Shamseddine A.   +5 more
europepmc   +1 more source