Somatic Mutations in “Benign” Disease DOI
Satu Mustjoki, Neal S. Young

New England Journal of Medicine, Journal Year: 2021, Volume and Issue: 384(21), P. 2039 - 2052

Published: May 26, 2021

DNA mutations occur in nearly every tissue throughout the human life span and accumulate at various rates different tissues according to intrinsic extrinsic factors. If a mutated clone acquires features that confer competitive advantage, clonal dominance can emerge. Such alterations have functional consequences cause disease.

Language: Английский

Clonal hematopoiesis in human aging and disease DOI Open Access
Siddhartha Jaiswal, Benjamin L. Ebert

Science, Journal Year: 2019, Volume and Issue: 366(6465)

Published: Oct. 31, 2019

As people age, their tissues accumulate an increasing number of somatic mutations. Although most these mutations are little or no functional consequence, a mutation may arise that confers fitness advantage on cell. When this process happens in the hematopoietic system, substantial proportion circulating blood cells derive from single mutated stem This outgrowth, called "clonal hematopoiesis," is highly prevalent elderly population. Here we discuss recent advances our knowledge clonal hematopoiesis, its relationship to malignancies, link nonmalignant diseases aging, and potential impact immune function. Clonal hematopoiesis provides glimpse into selection likely occurs all tissues.

Language: Английский

Citations

862
The central role of DNA damage in the ageing process DOI
Björn Schumacher, Joris Pothof, Jan Vijg

et al.

Nature, Journal Year: 2021, Volume and Issue: 592(7856), P. 695 - 703

Published: April 28, 2021

Language: Английский

Citations

677
Unravelling tumour heterogeneity by single-cell profiling of circulating tumour cells DOI
Laura Keller, Klaus Pantel

Nature reviews. Cancer, Journal Year: 2019, Volume and Issue: 19(10), P. 553 - 567

Published: Aug. 27, 2019

Language: Английский

Citations

473
Advances in molecular classification and precision oncology in hepatocellular carcinoma DOI Creative Commons
Sandra Rebouissou, Jean‐Charles Nault

Journal of Hepatology, Journal Year: 2020, Volume and Issue: 72(2), P. 215 - 229

Published: Jan. 15, 2020

Language: Английский

Citations

445
Tobacco smoking and somatic mutations in human bronchial epithelium DOI
Kenichi Yoshida, Kate H.C. Gowers, Henry Lee-Six

et al.

Nature, Journal Year: 2020, Volume and Issue: 578(7794), P. 266 - 272

Published: Jan. 29, 2020

Language: Английский

Citations

441
ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group DOI Creative Commons
Javier Pascual, Gerhardt Attard, François‐Clément Bidard

et al.

Annals of Oncology, Journal Year: 2022, Volume and Issue: 33(8), P. 750 - 768

Published: July 6, 2022

•Validated and sensitive ctDNA assays can be used to genotype advanced cancers select patients for targeted therapies.•Initial genotyping with should considered when rapid results are needed, tissue is unavailable.•ctDNA assay limited by false-negative results, lower sensitivity fusion events copy number changes.•Use of detect molecular residual disease not recommended, due lack evidence its clinical utility. Circulating tumour DNA (ctDNA) conducted on plasma rapidly developing a strong base use in cancer. The European Society Medical Oncology convened an expert working group review the analytical validity utility assays. For cancer, validated adequately have identifying actionable mutations direct therapy, may routine practice, provided limitations taken into account. Tissue-based testing remains preferred test many cancer patients, detecting changes, although routinely faster will clinically important, or biopsies possible inappropriate. Reflex following non-informative result, testing. In treated early-stage cancers, detection relapse, has high anticipating future relapse cancers. Molecular disease/molecular cannot recommended as currently there no directing treatment. Additional potential applications assays, under research development include responding therapy early dynamic changes levels, monitoring resistance before progression, screening asymptomatic people Recommendations reporting made.

Language: Английский

Citations

415
Somatic mutation landscapes at single-molecule resolution DOI
Federico Abascal, Luke M. R. Harvey, Emily Mitchell

et al.

Nature, Journal Year: 2021, Volume and Issue: 593(7859), P. 405 - 410

Published: April 28, 2021

Language: Английский

Citations

372
Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring DOI
Asaf Zviran, Rafael Schulman,

Minita Shah

et al.

Nature Medicine, Journal Year: 2020, Volume and Issue: 26(7), P. 1114 - 1124

Published: June 1, 2020

Language: Английский

Citations

321
Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics DOI
Anna S. Nam, Ronan Chaligné, Dan A. Landau

et al.

Nature Reviews Genetics, Journal Year: 2020, Volume and Issue: 22(1), P. 3 - 18

Published: Aug. 17, 2020

Language: Английский

Citations

316
The gut microbiome switches mutant p53 from tumour-suppressive to oncogenic DOI

Eliran Kadosh,

Irit Snir-Alkalay,

Avanthika Venkatachalam

et al.

Nature, Journal Year: 2020, Volume and Issue: 586(7827), P. 133 - 138

Published: July 29, 2020

Language: Английский

Citations

292