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 …

Notch in head and neck cancer

C Porcheri, TA Mitsiadis - Notch Signaling in Embryology and Cancer …, 2021 - Springer
Head and neck cancer is a group of neoplastic diseases affecting the facial, oral, and neck
region. It is one of the most common cancers worldwide with an aggressive, invasive …

Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma

HV Erkizan, S Sukhadia, TG Natarajan, G Marino… - Scientific Reports, 2021 - nature.com
Esophageal cancer has a strikingly low survival rate mainly due to the lack of diagnostic
markers for early detection and effective therapies. In the US, 75% of individuals diagnosed …

[HTML][HTML] A platform of functional studies of ESCC-associated gene mutations identifies the roles of TGFBR2 in ESCC progression and metastasis

J Wang, J Du, X Luo, L Guo, Y Liu, J Zhou, Y Zou, Z Lu… - Cell Reports, 2024 - cell.com
Genomics studies have detected numerous genetic alterations in esophageal squamous
cell carcinoma (ESCC). However, the functions of these mutations largely remain elusive …

Prognostic value of genomic mutation signature associated with immune microenvironment in southern Chinese patients with esophageal squamous cell carcinoma

Y Zhou, L Chu, S Li, X Chu, J Ni, S Jiang… - Cancer Immunology …, 2024 - Springer
The genomic landscape of esophageal squamous cell cancer (ESCC), as well as its impact
on the regulation of immune microenvironment, is not well understood. Thus, tumor samples …

[HTML][HTML] Genomic Instability in cancer I: DNA-Repair triggering primitive hereditary 4n-Skewed, amitotic division-system, the culprit in EMT/MET/Metaplasia cancer …

KH Walen - Journal of Cancer Therapy, 2018 - scirp.org
The objective was to gain proof of genome damage-repair induced mitotic slippage process
(MSP) to 4n-diplochromosome skewed division-system, earlier suggested to have “cancer …

[HTML][HTML] Wound Healing Is a First Response in a Cancerous Pathway: Hyperplasia Developments to 4n Cell Cycling in Dysplasia Linked to Rb-Inactivation

KH Walen - Journal of Cancer Therapy, 2015 - scirp.org
In a series of publications, the hypothesis of a special-type of endo-polyploidy, marked by 4-
chromatid chromosomes (diplochromosomes), in the initiation of tumorigenesis has been …

UGT2B17 and miR-224 contribute to hormone dependency trends in adenocarcinoma and squamous cell carcinoma of esophagus

X Lian, A Baranova, J Ngo, G Yu, H Cao - Bioscience reports, 2019 - portlandpress.com
Esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EA) are
the two main subtypes of esophageal cancer. Genetics underpinnings of EA are …

Development of computational tools for variant calling in single-cell RNAseq

KA Zielińska - 2022 - ora.ox.ac.uk
Single-cell sequencing technologies have unsurprisingly become a favourable choice for
studying key biological questions about cell heterogeneity, rare cell types or lineages. It is …

[HTML][HTML] Cancer Prevention? Fundamental Genomic Alterations Are Present in Preneoplasia, Including Function of High Frequency Selected Mutations (HFSMs)

KH Walen - Journal of Cancer Therapy, 2016 - scirp.org
In a series of publications a special, tetraploid diplochromosomal division system to only two
types of progeny cells (4n/4C/G1 and 2n/4C para-diploid) has been suggested to initiate …