Results 51 to 60 of about 1,149,362 (252)

Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Egyptian Pediatric Association Gazette
Background Colorectal carcinoma (CRC) is rarely seen in the pediatric population. Hereditary cancers due to mismatch repair deficiency cause colorectal, brain, hematological malignancies, and other tumors in early childhood.
Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi   +2 more
doaj   +1 more source

Immunhistokjemisk påvisning av mismatch repair-proteiner [PDF]

, 2019
Bakgrunn: Immunhistokjemisk farging av vevssnitt kan påvise mismatch repair (MMR)- proteinene MLH1, PMS2, MSH2 og MSH6, som normalt uttrykkes i cellekjernen. Tap av en eller flere av disse kan indikere Lynch syndrom.
Amundlien, Eirin, Wålberg, Lise Eid, Sandberg, Renate   +2 more
core   +1 more source

Persistent mutant oncogene specific T cells in two patients benefitting from anti-PD-1

Journal for ImmunoTherapy of Cancer, 2019
Background Several predictive biomarkers are currently approved or are under investigation for the selection of patients for checkpoint blockade. Tumor PD-L1 expression is used for stratification of non-small cell lung (NSCLC) patients, with tumor ...
Kellie N. Smith, Nicolas J. Llosa, Tricia R. Cottrell, Nicholas Siegel, Hongni Fan, Prerna Suri, Hok Yee Chan, Haidan Guo, Teniola Oke, Anas H. Awan, Franco Verde, Ludmila Danilova, Valsamo Anagnostou, Ada J. Tam, Brandon S. Luber, Bjarne R. Bartlett, Laveet K. Aulakh, John-William Sidhom, Qingfeng Zhu, Cynthia L. Sears, Leslie Cope, William H. Sharfman, Elizabeth D. Thompson, Joanne Riemer, Kristen A. Marrone, Jarushka Naidoo, Victor E. Velculescu, Patrick M. Forde, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Jennifer N. Durham, Hao Wang, Dung T. Le, Sune Justesen, Janis M. Taube, Luis A. Diaz, Julie R. Brahmer, Drew M. Pardoll, Robert A. Anders, Franck Housseau   +40 more
doaj   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source

Preprint: Mutation Rate Evolution Drives Immune Escape In Mismatch Repair-Deficient Cancer

, 2022
SUMMARY Mutation rate optimisation drives evolution and immune evasion of bacteria and lentiviral strains, including HIV. Whether evolving cancer lineages similarly adapt mutation rates to increase tumour cell fitness is unknown.
Daniel Hochhauser, Hamzeh Kayhanian, Panagiotis Barmpoutis, Luis Zapata, Trevor Graham, Andrea Sottoriva, Christopher Steele, Chen Jin, Manuel Rodriguez-Justo, Naomi Guppy, Eszter Lakatos, Daniel Alexander, Marjolijn J.L. Ligtenberg, Kevin Litchfield, Khurum Khan, Iris D. Nagtegaal, Nischalan Pillay, Genomics England Research Consortium, William Waddingham, Giulio Caravagna, Marco Novelli, Kai-Keen Shiu, William Cross, Benjamin Werner, Christopher Ross, Salvatore Milite, Marnix Jansen, Dominic Patel, Ann-Marie Baker, Josep Linares   +29 more
core   +1 more source

Low frequency of mismatch repair deficiency in gallbladder cancer

Diagnostic Pathology, 2019
Background DNA mismatch repair (MMR) deficiency is a major pathway of genomic instability in cancer. It leads to the accumulation of numerous mutations predominantly at microsatellite sequences, a phenotype known as microsatellite instability (MSI).
Benjamin Goeppert, Stephanie Roessler, Marcus Renner, Moritz Loeffler, Stephan Singer, Melina Rausch, Thomas Albrecht, Arianeb Mehrabi, Monika Nadja Vogel, Anita Pathil, Elena Czink, Bruno Köhler, Christoph Springfeld, Christian Rupp, Karl Heinz Weiss, Peter Schirmacher, Magnus von Knebel Doeberitz, Matthias Kloor   +17 more
doaj   +1 more source

Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response

Nature Communications, 2021
Microsatellite instability (MSI), caused by deficiency of the DNA mismatch repair system, has been associated with improved response to immune checkpoint blockade (ICB).
Yu-Ting Yen, May Chien, Pei-Yi Wu, Chi-Chang Ho, Chun-Te Ho, Kevin Chih-Yang Huang, Shu-Fen Chiang, K. S. Clifford Chao, William Tzu-Liang Chen, Shih-Chieh Hung   +9 more
doaj   +1 more source

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo

FEBS Open Bio, EarlyView.
To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source