scispace - formally typeset
Open AccessJournal ArticleDOI

OncoKB: A Precision Oncology Knowledge Base.

Reads0
Chats0
TLDR
OncoKB, a comprehensive and curated precision oncology knowledge base, offers oncologists detailed, evidence-based information about individual somatic mutations and structural alterations present in patient tumors with the goal of supporting optimal treatment decisions.
Abstract
PurposeWith prospective clinical sequencing of tumors emerging as a mainstay in cancer care, an urgent need exists for a clinical support tool that distills the clinical implications associated with specific mutation events into a standardized and easily interpretable format. To this end, we developed OncoKB, an expert-guided precision oncology knowledge base.MethodsOncoKB annotates the biologic and oncogenic effects and prognostic and predictive significance of somatic molecular alterations. Potential treatment implications are stratified by the level of evidence that a specific molecular alteration is predictive of drug response on the basis of US Food and Drug Administration labeling, National Comprehensive Cancer Network guidelines, disease-focused expert group recommendations, and scientific literature.ResultsTo date, > 3,000 unique mutations, fusions, and copy number alterations in 418 cancer-associated genes have been annotated. To test the utility of OncoKB, we annotated all genomic events in 5,98...

read more

Citations
More filters
Journal ArticleDOI

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

Ahmet Zehir, +99 more
- 08 May 2017 - 
TL;DR: A large-scale, prospective clinical sequencing initiative using a comprehensive assay, MSK-IMPACT, through which tumor and matched normal sequence data from a unique cohort of more than 10,000 patients with advanced cancer are compiled and identified clinically relevant somatic mutations, novel noncoding alterations, and mutational signatures that were shared by common and rare tumor types.
Journal ArticleDOI

Oncogenic Signaling Pathways in The Cancer Genome Atlas

TL;DR: This work charted the detailed landscape of pathway alterations in 33 cancer types, stratified into 64 subtypes, and identified patterns of co-occurrence and mutual exclusivity.
Journal ArticleDOI

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer

A. Gordon Robertson, +170 more
- 19 Oct 2017 - 
TL;DR: An analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms identified 5 expression subtypes that may stratify response to different treatments and identified a poor-survival "neuronal" subtype in which the majority of tumors lacked small cell or neuroendocrine histology.
Journal ArticleDOI

Comprehensive Characterization of Cancer Driver Genes and Mutations.

TL;DR: This study reports a PanCancer and PanSoftware analysis spanning 9,423 tumor exomes (comprising all 33 of The Cancer Genome Atlas projects) and using 26 computational tools to catalog driver genes and mutations, identifying 299 driver genes with implications regarding their anatomical sites and cancer/cell types.
References
More filters
Journal ArticleDOI

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Journal ArticleDOI

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data

TL;DR: The cBio Cancer Genomics Portal significantly lowers the barriers between complex genomic data and cancer researchers who want rapid, intuitive, and high-quality access to molecular profiles and clinical attributes from large-scale cancer genomics projects and empowers researchers to translate these rich data sets into biologic insights and clinical applications.
Journal ArticleDOI

Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal

TL;DR: A practical guide to the analysis and visualization features of the cBioPortal for Cancer Genomics, which makes complex cancer genomics profiles accessible to researchers and clinicians without requiring bioinformatics expertise, thus facilitating biological discoveries.
Journal ArticleDOI

Comprehensive molecular portraits of human breast tumours

Daniel C. Koboldt, +355 more
- 04 Oct 2012 - 
TL;DR: The ability to integrate information across platforms provided key insights into previously defined gene expression subtypes and demonstrated the existence of four main breast cancer classes when combining data from five platforms, each of which shows significant molecular heterogeneity.
Journal ArticleDOI

Comprehensive molecular characterization of human colon and rectal cancer

Donna M. Muzny, +320 more
- 19 Jul 2012 - 
TL;DR: Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.
Related Papers (5)

Signatures of mutational processes in human cancer

Ludmil B. Alexandrov, +84 more
- 22 Aug 2013 - 

Mutational heterogeneity in cancer and the search for new cancer-associated genes

Michael S. Lawrence, +96 more
- 11 Jul 2013 -