Profiling the cancer genome

PA Cowin, M Anglesio… - Annual review of …, 2010 - annualreviews.org
Cancer profiling studies have had a profound impact on our understanding of the biology of
cancers in a number of ways, including providing insights into the biological heterogeneity of …

Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing

AY Maslov, S Makhortov, S Sun, J Heid, X Dong… - Science …, 2022 - science.org
Postzygotic somatic mutations have been found associated with human disease, including
diseases other than cancer. Most information on somatic mutations has come from studying …

[HTML][HTML] Data resources for the identification and interpretation of actionable mutations by clinicians

A Prawira, TJ Pugh, TL Stockley, LL Siu - Annals of Oncology, 2017 - Elsevier
Following initial characterization of the reference human genome, initiatives have evolved
worldwide to identify genomic aberrations in cancer with the aim of deriving diagnostic …

COSMIC: the catalogue of somatic mutations in cancer

JG Tate, S Bamford, HC Jubb, Z Sondka… - Nucleic acids …, 2019 - academic.oup.com
Abstract COSMIC, the Catalogue Of Somatic Mutations In Cancer (https://cancer. sanger. ac.
uk) is the most detailed and comprehensive resource for exploring the effect of somatic …

Exploring the genomes of cancer cells: progress and promise

MR Stratton - science, 2011 - science.org
The description and interpretation of genomic abnormalities in cancer cells have been at the
heart of cancer research for more than a century. With exhaustive sequencing of cancer …

An overview of mutational and copy number signatures in human cancer

CD Steele, N Pillay, LB Alexandrov - The Journal of Pathology, 2022 - Wiley Online Library
The genome of each cell in the human body is constantly under assault from a plethora of
exogenous and endogenous processes that can damage DNA. If not successfully repaired …

Rates and patterns of clonal oncogenic mutations in the normal human brain

J Ganz, EA Maury, B Becerra, S Bizzotto, RN Doan… - Cancer discovery, 2022 - AACR
Although oncogenic mutations have been found in nondiseased, proliferative nonneural
tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes …

[HTML][HTML] Systematic identification of mutations and copy number alterations associated with cancer patient prognosis

JC Smith, JM Sheltzer - elife, 2018 - elifesciences.org
Successful treatment decisions in cancer depend on the accurate assessment of patient risk.
To improve our understanding of the molecular alterations that underlie deadly …

[HTML][HTML] Estimating the predictive power of silent mutations on cancer classification and prognosis

T Gutman, G Goren, O Efroni, T Tuller - NPJ Genomic Medicine, 2021 - nature.com
In recent years it has been shown that silent mutations, in and out of the coding region, can
affect gene expression and may be related to tumorigenesis and cancer cell fitness …

[HTML][HTML] Portrait of a cancer: mutational signature analyses for cancer diagnostics

A Van Hoeck, NH Tjoonk, R van Boxtel, E Cuppen - BMC cancer, 2019 - Springer
Background In the past decade, systematic and comprehensive analyses of cancer
genomes have identified cancer driver genes and revealed unprecedented insight into the …