Results 31 to 40 of about 277,677 (243)

Chromosomal breaks at the origin of small tandem DNA duplications

BioEssays, Volume 45, Issue 1, January 2023., 2023
Small tandem DNA duplications form a specific mutational signature frequently found in human disease alleles and cancer genes. Here we hypothesize that these duplications mainly arise at chromosomal DNA breaks that result from two closely located single‐stranded nicks, through error‐prone repair by the non‐homologous end‐joining pathway. Abstract Small
Joost Schimmel, Marloes D. van Wezel, Robin van Schendel, Marcel Tijsterman   +3 more
wiley   +1 more source

Identification of a Gene Signature to Aid Treatment Decisions by Integrated Analysis of Mutated Genes Between Primary and Metastatic Prostate Cancer

Frontiers in Genetics, 2022
Prostate cancer is one of the most common malignancies in males. Despite the recent development of advanced diagnostic platforms and treatment, patients with metastatic disease still have a poor five-year survival rate.
Qinyu Li, Xueyan Xiao, Bingliang Chen, Guoda Song, Kai Zeng, Jianping Miao   +5 more
doaj   +1 more source

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract

Cancer Communications, Volume 42, Issue 12, Page 1367-1386, December 2022., 2022
Abstract Background Neuroendocrine carcinomas of the gastrointestinal tract (GI‐NECs) remain a disease of grim prognosis with limited therapeutic options. Their molecular characteristics are still undefined. This study aimed to explore the underlying genetic basis and heterogeneity of GI‐NECs.
Huanwen Wu, Zicheng Yu, Yueping Liu, Lei Guo, Lianghong Teng, Lingchuan Guo, Li Liang, Jing Wang, Jie Gao, Ruiyu Li, Ling Yang, Xiu Nie, Dan Su, Zhiyong Liang   +13 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

CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer

Database J. Biol. Databases Curation, 2021
Human copy number variations (CNVs) and copy number alterations (CNAs) are DNA segments (>1000 base pairs) of duplications or deletions with respect to the reference genome, potentially causing genomic imbalance leading to diseases such as cancer.
A. Chattopadhyay, Zi Han Teoh, Chi-Yun Wu, J. M. Juang, L. Lai, M. Tsai, Chia-Hsin Wu, T. Lu, E. Chuang   +8 more
semanticscholar   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Annotating Whole Genome Sequencing in COSMIC (The Catalogue of Somatic Mutations in Cancer) [PDF]

, 2010
"COSMIC, the Catalogue Of Somatic Mutations In Cancer":http://www.sanger.ac.uk/cosmic is designed to store and display somatic mutation information relating to human cancers, combining detailed information on publications, samples and mutation ...
A Menzies, C G Cole, C Y Kok, D Breare, J Teague, K Leung, M Jia, M R Stratton, N Bindal, P A Futreal, R Shepherd, S A Forbes, S Bamford   +12 more
core   +2 more sources

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

COSMIC 2005 [PDF]

, 2006
The Catalogue Of Somatic Mutations In Cancer (COSMIC) database and web site was developed to preserve somatic mutation data and share it with the community.
A Bardelli, A Dogan, A Flanagan, A Luch, B Vogelstein, D Fredman, DE Barnes, E Dawson, G Bignell, G Slupphaug, H Davies, J Clements, J Teague, JG Paez, JM Davison, M Olivier, M R Stratton, P A Futreal, P Stephens, PA Futreal, PD Stenson, PM O’Connor, R Wooster, S Bamford, S Bamford, S Forbes, T Webb, Z Wang   +27 more
core   +2 more sources

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source