Mutational signatures: emerging concepts, caveats and clinical applications
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 …
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Clonal expansion in non-cancer tissues
N Kakiuchi, S Ogawa - Nature Reviews Cancer, 2021 - nature.com
Cancer is a clonal disorder derived from a single ancestor cell and its progenies that are
positively selected by acquisition of 'driver mutations'. However, the evolution of positively …
positively selected by acquisition of 'driver mutations'. However, the evolution of positively …
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
F Nadeu, R Royo, R Massoni-Badosa… - Nature medicine, 2022 - nature.com
Richter transformation (RT) is a paradigmatic evolution of chronic lymphocytic leukemia
(CLL) into a very aggressive large B cell lymphoma conferring a dismal prognosis. The …
(CLL) into a very aggressive large B cell lymphoma conferring a dismal prognosis. The …
Pan-cancer landscape of homologous recombination deficiency
L Nguyen, J WM Martens, A Van Hoeck… - Nature …, 2020 - nature.com
Homologous recombination deficiency (HRD) results in impaired double strand break repair
and is a frequent driver of tumorigenesis. Here, we develop a genome-wide mutational scar …
and is a frequent driver of tumorigenesis. Here, we develop a genome-wide mutational scar …
Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis
R Pinyol, S Torrecilla, H Wang, C Montironi… - Journal of …, 2021 - Elsevier
Background and Aims Non-alcoholic steatohepatitis (NASH)-related hepatocellular
carcinoma (HCC) is increasing globally, but its molecular features are not well defined. We …
carcinoma (HCC) is increasing globally, but its molecular features are not well defined. We …
Biomarkers as biomedical bioindicators: approaches and techniques for the detection, analysis, and validation of novel Biomarkers of diseases
A Ahmad, M Imran, H Ahsan - Pharmaceutics, 2023 - mdpi.com
A biomarker is any measurable biological moiety that can be assessed and measured as a
potential index of either normal or abnormal pathophysiology or pharmacological responses …
potential index of either normal or abnormal pathophysiology or pharmacological responses …
Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes
Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1
rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non …
rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non …
Genomic and immune signatures predict clinical outcome in newly diagnosed multiple myeloma treated with immunotherapy regimens
Despite improving outcomes, 40% of patients with newly diagnosed multiple myeloma
treated with regimens containing daratumumab, a CD38-targeted monoclonal antibody …
treated with regimens containing daratumumab, a CD38-targeted monoclonal antibody …
MutationalPatterns: the one stop shop for the analysis of mutational processes
F Manders, AM Brandsma, J de Kanter, M Verheul… - BMC genomics, 2022 - Springer
Background The collective of somatic mutations in a genome represents a record of
mutational processes that have been operative in a cell. These processes can be …
mutational processes that have been operative in a cell. These processes can be …
Premature menopause, clonal hematopoiesis, and coronary artery disease in postmenopausal women
Background: Premature menopause is an independent risk factor for cardiovascular disease
in women, but mechanisms underlying this association remain unclear. Clonal …
in women, but mechanisms underlying this association remain unclear. Clonal …