COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Nucleic Acids Res., 2014 COSMIC, the Catalogue Of Somatic Mutations In Cancer (http://cancer.sanger.ac.uk) is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. Our latest release (v70; Aug 2014) describes 2 002 811
S. Forbes +16 more
semanticscholar +1 more source
The driver landscape of sporadic chordoma. [PDF]
, 2017 Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T)
Alexandrov, Ludmil B +31 more
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Metastases risk in thin cutaneous melanoma: Prognostic value of clinical-pathologic characteristics and mutation profile [PDF]
, 2018 Background: A high percentage of patients with thin melanoma (TM), defined as lesions with Breslow thickness ≤1 mm, presents excellent long-term survival, however, some patients develop metastases.
Calvieri, Stefano +12 more
core +1 more source
Confidence-based somatic mutation evaluation and prioritization.
PLoS Computational Biology, 2012 Next generation sequencing (NGS) has enabled high throughput discovery of somatic mutations. Detection depends on experimental design, lab platforms, parameters and analysis algorithms.
Martin Löwer +12 more
doaj +1 more source
Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data. [PDF]
, 2014 Breast cancer is one of the most commonly diagnosed cancers in women. While there are several effective therapies for breast cancer and important single gene prognostic/predictive markers, more than 40,000 women die from this disease every year.
Bainbridge, Matthew N +3 more
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Proteogenomics connects somatic mutations to signaling in breast cancer
Nature, 2016 Somatic mutations have been extensively characterized in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain poorly understood. Here we describe quantitative mass-spectrometry-based proteomic and phosphoproteomic
Philipp Mertins +37 more
semanticscholar +1 more source
Frequency and spectrum of PIK3CA somatic mutations in breast cancer
Breast Cancer Research, 2020 The therascreen PIK3CA mutation assay and the alpha-specific PI3K inhibitor alpelisib are FDA-approved for identifying and treating patients with advanced PIK3CA-mutated (PIK3CAmut) breast cancer (BC). However, it is currently unknown to what extend this
O. Martínez-Sáez +16 more
semanticscholar +1 more source
Somatic Mutations in Fruit Trees: Causes, Detection Methods, and Molecular Mechanisms
Plants, 2023 Somatic mutations are genetic changes that occur in non-reproductive cells. In fruit trees, such as apple, grape, orange, and peach, somatic mutations are typically observed as “bud sports” that remain stable during vegetative propagation.
Seunghyun Ban, Je Hyeong Jung
doaj +1 more source
PLoS Genetics, 2022 Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs.
Ja Hye Kim +12 more
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Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma
BMC Cancer, 2018 Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens +4 more
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