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 …

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 …

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 …

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 …

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 …

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 …

Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes

F Nadeu, D Martin-Garcia, G Clot… - Blood, The Journal …, 2020 - ashpublications.org
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 …

Genomic and immune signatures predict clinical outcome in newly diagnosed multiple myeloma treated with immunotherapy regimens

F Maura, EM Boyle, D Coffey, K Maclachlan, D Gagler… - Nature cancer, 2023 - nature.com
Despite improving outcomes, 40% of patients with newly diagnosed multiple myeloma
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 …

Premature menopause, clonal hematopoiesis, and coronary artery disease in postmenopausal women

MC Honigberg, SM Zekavat, A Niroula, GK Griffin… - Circulation, 2021 - Am Heart Assoc
Background: Premature menopause is an independent risk factor for cardiovascular disease
in women, but mechanisms underlying this association remain unclear. Clonal …