Results 31 to 40 of about 29,309 (251)

Research Progress on Combined Immunotherapy for Microsatellite Stable Colorectal Cancer

Zhongliu Fangzhi Yanjiu, 2022
In recent years, immunotherapy has achieved great progress in the treatment of malignant tumors and has enriched the treatment mode of many types of malignant tumors. Colorectal cancer is a common tumor worldwide.
YIN Zhucheng, LIANG Xinjun
doaj   +1 more source

Efficient repair of A/C mismatches in mouse cells deficient in long‐patch mismatch repair [PDF]

The EMBO Journal, 2000
A previously unrecognized mismatch repair activity is described. Extracts of immortalized MSH2-deficient mouse fibroblasts did not correct most single base mispairs. The same extracts carried out efficient repair of A/C mismatches. A/G mispairs were less efficiently corrected and there was no significant repair of A/A.
S, Oda, O, Humbert, S, Fiumicino, M, Bignami, P, Karran   +4 more
openaire   +2 more sources

Histopathologic Features for Overall Survival in Merkel Cell Carcinoma: A Case Series with Intact Mismatch Repair Protein Expression

Türk Patoloji Dergisi, 2023
Objective: In a study of Merkel cell carcinoma (MCC), a fusion transcript between MLH1 and SPATA4 was identified. This fusion has the potential to generate the inactive or dominant-negative form of the protein.
Selin KESTEL, Betul OGUT, Mehmet Arda INAN, Ozlem ERDEM   +3 more
doaj   +1 more source

Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome (CMMRD): a Case Report with Literature Review

Journal of Cancer and Allied Specialties, 2021
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease-carrying an increased risk of cancers (pediatric tumors of central nervous system, haemato-lymphoid malignancies along with gastrointestinal (GI) cancer(
Muhammad Irfan Basheer, Iftikhar Ali Rana, Umer Nisar Sheikh, Muhammad Aasim Yusuf, Irfana Ishaq Sindhu, Asif Loya   +5 more
doaj   +1 more source

Human MRE11 is inactivated in mismatch repair‐deficient cancers [PDF]

The EMBO Reports, 2002
Mutations of the ATM and NBS1 genes are responsible for the inherited Ataxia-Telangiectasia and Nijmegen Breakage Syndrome, both of which are associated with a predisposition to cancer. A related syndrome, the Ataxia-Telangiectasia-like disorder, is due to mutations of the MRE11 gene.
GIANNINI, Giuseppe, E. Ristori, F. Cerignoli, C. Rinaldi, ZANI, Massimo, A. Viel, OTTINI, LAURA, M. Crescenzi, S. Martinotti, M. Bignami, FRATI, Luigi, SCREPANTI, Isabella, GULINO, Alberto   +12 more
openaire   +3 more sources

Cerebral developmental venous anomalies in children with mismatch repair deficiency

The Turkish Journal of Pediatrics, 2022
Background. Constitutional mismatch repair deficiency (CMMRD) is one of the rare cancer predisposition syndromes. The aim of this study was to evaluate the cerebral developmental venous anomalies in children with central nervous system tumors ...
Buket Kara, Yahya Paksoy, Ahmet Okay Çağlayan, Nusret Seher, Hilal Akbaş, Yavuz Köksal   +5 more
doaj   +1 more source

[Constitutional mismatch repair deficiency syndrome]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2015
BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child.
Jongmans, M.C.J., Gidding, C.E.M., Loeffen, J., Wesseling, P., Mensenkamp, A., Hoogerbrugge, N.   +5 more
openaire   +2 more sources

Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium

Indian Journal of Medical and Paediatric Oncology
Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in ...
Gazel Sainulabdin, Purva Kanvinde, Ritika Khurana, Sangeeta Mudaliar, Vasudeva Bhat K, Anju Shukla, V. P. Krishnan, Yamini Krishnan   +7 more
doaj   +1 more source

Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review

Frontiers in Immunology, 2023
Genetic mutations that render mismatch repair defective may result in microsatellite instability, which is common in colorectal carcinomas and gastric cancers as well as Lynch syndrome. Mismatch repair deficiency/high microsatellite instability (dMMR/MSI-
Na Li, Zixuan Wan, Dongyan Lu, Ruilian Chen, Xiaowei Ye   +4 more
doaj   +1 more source

Nonoperative Management of Mismatch Repair–Deficient Tumors

New England Journal of Medicine
Among patients with mismatch repair-deficient (dMMR), locally advanced rectal cancer, neoadjuvant checkpoint blockade eliminated the need for surgery in a high proportion of patients. Whether this approach can be extended to all early-stage dMMR solid tumors, regardless of tumor site, is unknown.We conducted a phase 2 study in which patients with stage
Andrea Cercek, Michael B. Foote, Benoit Rousseau, J. Joshua Smith, Jinru Shia, Jenna Sinopoli, Jill Weiss, Melissa Lumish, Lindsay Temple, Miteshkumar Patel, Callahan Wilde, Leonard B. Saltz, Guillem Argiles, Zsofia Stadler, Oliver Artz, Steven Maron, Geoffrey Ku, Ping Gu, Yelena Y. Janjigian, Daniela Molena, Gopa Iyer, Jonathan Coleman, Wassim Abida, Seth Cohen, Kevin Soares, Mark Schattner, Vivian E. Strong, Rona Yaeger, Philip Paty, Marina Shcherba, Ryan Sugarman, Paul B. Romesser, Alice Zervoudakis, Avni Desai, Neil H. Segal, Imane El Dika, Maria Widmar, Iris Wei, Emmanouil Pappou, Gerard Fumo, Santiago Aparo, Mithat Gonen, Marc Gollub, Vetri S. Jayaprakasam, Tae-Hyung Kim, Julio Garcia Aguilar, Martin Weiser, Luis A. Diaz   +47 more
openaire   +5 more sources