Results 51 to 60 of about 2,631,955 (205)

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Muir‐Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation.
Peter Georgeson, Michael D. Walsh, Mark Clendenning, Simin Daneshvar, Bernard J. Pope, Khalid Mahmood, Jihoon E. Joo, Harindra Jayasekara, Mark A. Jenkins, Ingrid M. Winship, Daniel D. Buchanan   +10 more
doaj   +1 more source

A combination of low TMB and PD-L1 expression predict poor progression-free survival of metastatic melanoma patients treated with first-line ipilimumab plus nivolumab

Frontiers in Immunology
Simple summaryCombinations of monoclonal antibodies that activate the immune system have been highly effective for treatment of melanoma that has spread (metastasized). Unfortunately, this type of immunotherapy treatment can trigger serious side effects.
Baylor Akhavan, Wolfram Samlowski, Wolfram Samlowski, Wolfram Samlowski   +3 more
doaj   +1 more source

Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis

Haematologica, 2020
A high allele burden of the KIT D816V mutation in peripheral blood or bone marrow aspirates indicates multi-lineage hematopoietic involvement and has been associated with an aggressive clinical course of systemic mastocytosis.
Georg Greiner, Michael Gurbisz, Franz Ratzinger, Nadine Witzeneder, Svenja Verena Class, Gregor Eisenwort, Ingrid Simonitsch-Klupp, Harald Esterbauer, Matthias Mayerhofer, Leonhard Müllauer, Wolfgang R. Sperr, Peter Valent, Gregor Hoermann   +12 more
doaj   +1 more source

Identification of novel cuproptosis-related lncRNA signatures to predict the prognosis and immune microenvironment of breast cancer patients

Frontiers in Oncology, 2022
BackgroundCuproptosis is a new modality of cell death regulation that is currently considered as a new cancer treatment strategy. Nevertheless, the prognostic predictive value of cuproptosis-related lncRNAs in breast cancer (BC) remains unknown.
Zi-Rong Jiang, Lin-Hui Yang, Liang-Zi Jin, Li-Mu Yi, Ping-Ping Bing, Jun Zhou, Jia-Sheng Yang   +6 more
doaj   +1 more source

Prevalence and mutational determinants of high tumor mutation burden in breast cancer [PDF]

Annals of Oncology, 2019
Abstract Background High tumor mutation burden (TMB) has been associated with benefit to immunotherapy in multiple tumor types. However, the prevalence of hypermutated breast cancer is not well described.
Barroso-Sousa, R., Jain, E., Cohen, O., Kim, D., Buendia-Buendia, J., Winer, E., Lin, N., Tolaney, S.M., Wagle, N.   +8 more
openaire   +2 more sources

Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion. [PDF]

PLoS ONE, 2017
Immune evasion is a well-recognized hallmark of cancer and recent studies with immunotherapy agents have suggested that tumors with increased numbers of neoantigens elicit greater immune responses. We hypothesized that the immune system presents a common
Lee A Albacker, Jeremy Wu, Peter Smith, Markus Warmuth, Philip J Stephens, Ping Zhu, Lihua Yu, Juliann Chmielecki   +7 more
doaj   +1 more source

Supplementary Figure 2 from Noninvasive Detection of Microsatellite Instability and High Tumor Mutation Burden in Cancer Patients Treated with PD-1 Blockade

, 2019
Plasma-Based Detection of Microsatellite Instability and High Tumor Mutation Burden in Patients with Sufficient Circulating Tumor DNA.
Steve Lu (6678503), James R. White (9416009), Luis A. Diaz (79765), Dung T. Le (14984627), David Riley (3044703), Jennifer N. Durham (15013647), Robert A. Anders (10076582), Andrew Georgiadis (15006537), Sam Angiuoli (81116), Erika Gedvilaite (15013668), Laurel A. Keefer (15013650), Ellen L. Verner (15013662), Bjarne R. Bartlett (15013653), Derek Murphy (15013659), Mark Sausen (15006549), Magdalena Zielonka (15013656), Siân Jones (6986), Victor E. Velculescu (14937201), Finey Ruan (15013665)   +18 more
core   +1 more source

MuBuCo: Mutation Burden Composition [PDF]

, 2022
Gene mutations can vary by type, in terms of affecting a single site, spanning hundreds of base pairs, or their over/under-representation in cancer cells. Collectively, these mutation types include: single nucleotide variants (SNVs), structural variants (
Pritha, Jafrin, Richardson, Jensen, Pugalenthi, Lokesh, Prasad, Rohit K., Hong, Raymond, Kuhlman, Christopher, Kowalski-Muegge, Jeanne, Jiang, Wenxuan, Arasappan, Dhivya, Srinivasan, Harish, Reddy, Himanshu, Nanduri, Rahul   +11 more
core   +1 more source

Challenges in bioinformatics approaches to tumor mutation burden analysis

Oncology Letters, 2021
Several immune checkpoint inhibitors (ICIs) have already been introduced into clinical practice or are in advanced phases of clinical experimentation. Extensive efforts are being made to identify robust biomarkers to select patients who may benefit from treatment with ICIs.
Fenizia, Francesca, Pasquale, Raffaella, Abate, Riziero Esposito, Lambiase, Matilde, Roma, Cristin, Bergantino, Francesca, Chaudhury, Ruchi, Hyland, Fiona, Allen, Christopher, Normanno, Nicola   +9 more
openaire   +3 more sources

Supplementary Figure 1 from Noninvasive Detection of Microsatellite Instability and High Tumor Mutation Burden in Cancer Patients Treated with PD-1 Blockade

, 2019
Archival Tissue-Based Detection of Microsatellite Instability and High Tumor Mutation Burden.
Steve Lu (6678503), James R. White (9416009), Luis A. Diaz (79765), Dung T. Le (14984627), David Riley (3044703), Jennifer N. Durham (15013647), Robert A. Anders (10076582), Andrew Georgiadis (15006537), Sam Angiuoli (81116), Erika Gedvilaite (15013668), Laurel A. Keefer (15013650), Ellen L. Verner (15013662), Bjarne R. Bartlett (15013653), Derek Murphy (15013659), Mark Sausen (15006549), Magdalena Zielonka (15013656), Siân Jones (6986), Victor E. Velculescu (14937201), Finey Ruan (15013665)   +18 more
core   +1 more source