Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]
, 2019 Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D +4 more
core +3 more sources
Loss-of-function cancer-linked mutations in the EIF4G2 non-canonical translation initiation factor
Life Science Alliance, 2023 This work identifies missense mutations in the translation initiation factor EIF4G2 gene in cancer, showing loss-of-function effects on binding to interacting proteins and translational activity.
Sara Meril +7 more
semanticscholar +1 more source
Identification of candidate genes for lung cancer somatic mutation test kits
Genetics and Molecular Biology, 2013 Over the past three decades, mortality from lung cancer has sharply and continuously increased in China, ascending to the first cause of death among all types of cancer.
Yong Chen +4 more
doaj +1 more source
Cancer3D: understanding cancer mutations through protein structures. [PDF]
, 2014 The new era of cancer genomics is providing us with extensive knowledge of mutations and other alterations in cancer. The Cancer3D database at http://www.cancer3d.org gives an open and user-friendly way to analyze cancer missense mutations in the context
Godzik, Adam +2 more
core +1 more source
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Nucleic Acids Res., 2010 COSMIC (http://www.sanger.ac.uk/cosmic) curates comprehensive information on somatic mutations in human cancer. Release v48 (July 2010) describes over 136 000 coding mutations in almost 542 000 tumour samples; of the 18 490 genes documented, 4803 (26 ...
S. Forbes +13 more
semanticscholar +1 more source
CDMPred: a tool for predicting cancer driver missense mutations with high-quality passenger mutations [PDF]
PeerJMost computational methods for predicting driver mutations have been trained using positive samples, while negative samples are typically derived from statistical methods or putative samples.
Lihua Wang +4 more
doaj +2 more sources
Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]
, 2014 Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram +7 more
core +2 more sources
Mutational landscape differences between young-onset and older-onset breast cancer patients
BMC Cancer, 2020 Background The incidence of breast cancer among young women (aged ≤40 years) has increased in North America and Europe. Fewer than 10% of cases among young women are attributable to inherited BRCA1 or BRCA2 mutations, suggesting an important role for ...
Nicole E. Mealey +6 more
doaj +1 more source
Superluminous supernovae: No threat from Eta Carinae [PDF]
, 2007 Recently Supernova 2006gy was noted as the most luminous ever recorded, with a total radiated energy of ~10^44 Joules. It was proposed that the progenitor may have been a massive evolved star similar to eta Carinae, which resides in our own galaxy at a ...
Adrian L. Melott +5 more
core +1 more source
New Lung Cancer Panel for High-Throughput Targeted Resequencing [PDF]
Genomics & Informatics, 2014 We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma.
Eun-Hye Kim +5 more
doaj +1 more source