Detecting somatic mutations in normal cells

Y Dou, HD Gold, LJ Luquette, PJ Park - Trends in Genetics, 2018 - cell.com
Somatic mutations have been studied extensively in the context of cancer. Recent studies
have demonstrated that high-throughput sequencing data can be used to detect somatic …

Somatic mutations in normal tissues: new perspectives on early carcinogenesis

A Herms, PH Jones - Annual Review of Cancer Biology, 2023 - annualreviews.org
Normal tissues progressively acquire mutations. Some mutations are positively selected,
driving clonal expansions that may colonize the majority of a tissue by old age. In several …

Age-related somatic mutation burden in human tissues

P Ren, X Dong, J Vijg - Frontiers in Aging, 2022 - frontiersin.org
The genome of multicellular organisms carries the hereditary information necessary for the
development of all organs and tissues and to maintain function in adulthood. To ensure the …

Mutations in normal tissues—some diagnostic and clinical implications

C Fiala, EP Diamandis - BMC medicine, 2020 - Springer
Background It has long been known that mutations are at the core of many diseases, most
notably cancer. Mutational analysis of tissues and fluids is useful for cancer and other …

Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?

D Tripathy, K Harnden, K Blackwell, M Robson - BMC medicine, 2014 - Springer
Next generation sequencing (NGS) coupled with sophisticated bioinformatics tools yields an
unprecedented amount of information regarding tumor genetics, with the potential to reveal …

Therapeutic and prognostic insights from the analysis of cancer mutational signatures

SW Brady, AM Gout, J Zhang - Trends in Genetics, 2022 - cell.com
The somatic mutations in each cancer genome are caused by multiple mutational
processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused …

Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

[HTML][HTML] Somatic variation in normal tissues: friend or foe of cancer early detection?

A Acha-Sagredo, P Ganguli, FD Ciccarelli - Annals of Oncology, 2022 - Elsevier
Background Seemingly normal tissues progressively become populated by mutant clones
over time. Most of these clones bear mutations in well-known cancer genes but only rarely …

The somatic mutation landscape of the human body

PE García-Nieto, AJ Morrison, HB Fraser - Genome biology, 2019 - Springer
Background Somatic mutations in healthy tissues contribute to aging, neurodegeneration,
and cancer initiation, yet they remain largely uncharacterized. Results To gain a better …

The dynamics of somatic mutagenesis during life in humans

F Manders, R van Boxtel, S Middelkamp - Frontiers in Aging, 2021 - frontiersin.org
From conception to death, human cells accumulate somatic mutations in their genomes.
These mutations can contribute to the development of cancer and non-malignant diseases …