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 …

Mapping the genomic diaspora of gastric cancer

KG Yeoh, P Tan - Nature reviews cancer, 2022 - nature.com
Gastric cancer (GC) is a leading contributor to global cancer incidence and mortality.
Pioneering genomic studies, focusing largely on primary GCs, revealed driver alterations in …

Maftools: efficient and comprehensive analysis of somatic variants in cancer

A Mayakonda, DC Lin, Y Assenov, C Plass… - Genome …, 2018 - genome.cshlp.org
Numerous large-scale genomic studies of matched tumor-normal samples have established
the somatic landscapes of most cancer types. However, the downstream analysis of data …

[PDF][PDF] Integrated genomic characterization of pancreatic ductal adenocarcinoma

BJ Raphael, RH Hruban, AJ Aguirre, RA Moffitt, JJ Yeh… - Cancer cell, 2017 - cell.com
We performed integrated genomic, transcriptomic, and proteomic profiling of 150 pancreatic
ductal adenocarcinoma (PDAC) specimens, including samples with characteristic low …

Oesophageal cancer

EC Smyth, J Lagergren, RC Fitzgerald… - Nature reviews Disease …, 2017 - nature.com
Oesophageal cancer is the sixth most common cause of cancer-related death worldwide
and is therefore a major global health challenge. The two major subtypes of oesophageal …

[HTML][HTML] The genomics of oxidative DNA damage, repair, and resulting mutagenesis

AR Poetsch - Computational and structural biotechnology journal, 2020 - Elsevier
Reactive oxygen species are a constant threat to DNA as they modify bases with the risk of
disrupting genome function, inducing genome instability and mutation. Such risks are due to …

[PDF][PDF] Comparative molecular analysis of gastrointestinal adenocarcinomas

Y Liu, NS Sethi, T Hinoue, BG Schneider… - Cancer cell, 2018 - cell.com
We analyzed 921 adenocarcinomas of the esophagus, stomach, colon, and rectum to
examine shared and distinguishing molecular characteristics of gastrointestinal tract …

[HTML][HTML] Integrated genomic characterization of oesophageal carcinoma

Cancer Genome Atlas Research Network - Nature, 2017 - ncbi.nlm.nih.gov
Oesophageal cancers are prominent worldwide; however, there are few targeted therapies
and survival rates for these cancers remain dismal. Here we performed a comprehensive …

[PDF][PDF] 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 …

An evolutionary perspective on field cancerization

K Curtius, NA Wright, TA Graham - Nature Reviews Cancer, 2018 - nature.com
Tumorigenesis begins long before the growth of a clinically detectable lesion and, indeed,
even before any of the usual morphological correlates of pre-malignancy are recognizable …