Pathogenesis of triple-negative breast cancer

F Derakhshan, JS Reis-Filho - Annual Review of Pathology …, 2022 - annualreviews.org
Triple-negative breast cancer (TNBC) encompasses a heterogeneous group of
fundamentally different diseases with different histologic, genomic, and immunologic …

A compendium of mutational cancer driver genes

F Martínez-Jiménez, F Muiños, I Sentís… - Nature Reviews …, 2020 - nature.com
A fundamental goal in cancer research is to understand the mechanisms of cell
transformation. This is key to developing more efficient cancer detection methods and …

Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

A Degasperi, X Zou, T Dias Amarante… - Science, 2022 - science.org
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses,
revealing mutational signatures, imprints of DNA damage, and repair processes that have …

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 …

Pan-cancer whole-genome comparison of primary and metastatic solid tumours

F Martínez-Jiménez, A Movasati, SR Brunner… - Nature, 2023 - nature.com
Metastatic cancer remains an almost inevitably lethal disease,–. A better understanding of
disease progression and response to therapies therefore remains of utmost importance …

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 …

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara… - Cell genomics, 2022 - cell.com
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer

DW Garsed, A Pandey, S Fereday, CJ Kennedy… - Nature …, 2022 - nature.com
Fewer than half of all patients with advanced-stage high-grade serous ovarian cancers
(HGSCs) survive more than five years after diagnosis, but those who have an exceptionally …

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

A Villani, S Davidson, N Kanwar, WW Lo, Y Li… - Nature Cancer, 2023 - nature.com
We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …

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 …