Results 51 to 60 of about 13,351 (224)

Per-sample immunoglobulin germline inference from B cell receptor deep sequencing data [PDF]

PLoS Comput Biol 15(7): e1007133 (2019), 2017
The collection of immunoglobulin genes in an individual's germline, which gives rise to B cell receptors via recombination, is known to vary significantly across individuals. In humans, for example, each individual has only a fraction of the several hundred known V alleles.
arxiv   +1 more source

Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi, Eric Feng, Nicholas R. Rydzewski, Amy K. Taylor, Jamie M. Sperger, Yue Shi, Kyle T. Helzer, Matthew L. Bootsma, Viridiana Carreno, Alex H. Chang, Luke A. Nunamaker, Grace C. Blitzer, Tianfu Andy Shang, Aishwarya Subramanian, Anders Bjartell, Andreas Josefsson, Pernilla Wikström, Emily Feng, Manish Kohli, Rendong Yang, Scott M. Dehm, Eric J. Small, Rahul Aggarwal, David A. Quigley, Joshua M. Lang, Shuang G. Zhao, Martin Sjöström   +26 more
wiley   +1 more source

The diagnosis, classification, and treatment of sarcoma in this era of artificial intelligence and immunotherapy

Cancer Communications, Volume 42, Issue 12, Page 1288-1313, December 2022., 2022
Abstract Soft‐tissue sarcomas (STS) represent a group of rare and heterogeneous tumors associated with several challenges, including incorrect or late diagnosis, the lack of clinical expertise, and limited therapeutic options. Digital pathology and radiomics represent transformative technologies that appear promising for improving the accuracy of ...
Amandine Crombé, Mathtieu Roulleau‐Dugage, Antoine Italiano   +2 more
wiley   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Multiplexed imaging of tumor immune microenvironmental markers in locally advanced or metastatic non‐small‐cell lung cancer characterizes the features of response to PD‐1 blockade plus chemotherapy

Cancer Communications, Volume 42, Issue 12, Page 1331-1346, December 2022., 2022
Abstract Background Although programmed cell death 1 (PD‐1) blockade plus chemotherapy can significantly prolong the progression‐free survival (PFS) and overall survival (OS) in first‐line settings in patients with driver‐negative advanced non‐small‐cell lung cancer (NSCLC), the predictive biomarkers remain undetermined.
Fengying Wu, Tao Jiang, Gongyan Chen, Yunchao Huang, Jianying Zhou, Lizhu Lin, Jifeng Feng, Zhehai Wang, Yongqian Shu, Jianhua Shi, Yi Hu, Qiming Wang, Ying Cheng, Jianhua Chen, Xiaoyan Lin, Yongsheng Wang, Jianan Huang, Jiuwei Cui, Lejie Cao, Yunpeng Liu, Yiping Zhang, Yueyin Pan, Jun Zhao, LiPing Wang, Jianhua Chang, Qun Chen, Xiubao Ren, Wei Zhang, Yun Fan, Zhiyong He, Jian Fang, Kangsheng Gu, Xiaorong Dong, Tao Zhang, Wei Shi, Jianjun Zou, Xuejuan Bai, Shengxiang Ren, Caicun Zhou, the CameL Study Group   +39 more
wiley   +1 more source

Timing, rates and spectra of human germline mutation [PDF]

Nature Genetics, 2015
Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation rate increased with paternal age in all families, but the number of additional mutations per year differed by more than twofold between families.
Rahbari, Raheleh, Wuster, Arthur, Lindsay, Sarah J, Hardwick, Robert J, Alexandrov, Ludmil B, Turki, Saeed Al, Dominiczak, Anna, Morris, Andrew, Porteous, David, Smith, Blair, Stratton, Michael R, UK10K Consortium, Hurles, Matthew E   +12 more
openaire   +6 more sources

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Germline RBBP6 mutations in familial myeloproliferative neoplasms [PDF]

Blood, 2016
To the editor: Myeloproliferative neoplasms (MPNs) comprise a heterogeneous group of hematologic disorders characterized by clonal overproduction of differentiated myeloid cells, propensity to thrombosis, hemorrhage, and increased risk of leukemia. Three MPN subtypes, polycythemia vera (PV),
Roland Jäger, Elisa Rumi, Alexey Stukalov, Katja Parapatics, Emma Hammond, Daniela Pietra, Giulio Superti-Furga, Heinz Gisslinger, Richard Herrmann, André C. Müller, Doris Chen, Keiryn L. Bennett, Florian P. Breitwieser, Jacques Colinge, Roberto Giambruno, Christian Krendl, Francesco Passamonti, Mario Cazzola, Bettina Gisslinger, Robert Kralovics, Robert Kralovics, Thorsten Klampfl, Ashot S. Harutyunyan, Tiina Berg, Jelena D. Milosevic Feenstra   +24 more
openaire   +7 more sources

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Understanding and Overcoming Immunotherapy Resistance in Skin Cancer: Mechanisms and Strategies

Aging and Cancer, EarlyView.
This narrative review explores the mechanisms driving immunotherapy resistance in skin cancer, including tumor microenvironment factors, genetic mutations, and immune evasion strategies. It highlights potential strategies to overcome resistance, offering insights for improving therapeutic outcomes and guiding future research in personalized ...
Shreya Singh Beniwal, Abhimanyu Chiraparambil Radhakrishnan, Ayanchetty Haripraba, Saif Syed, Gajawada Pragna, Ayush Dwivedi, Akash Rawat, Daniela Castro Calderón, Martin Cevallos‐Cueva   +8 more
wiley   +1 more source