2026
conference-abstract
OpenAlex
Beomki Lee, Ryul Kim, Chunyang Bao, Hansol Park et autres
Abstract Overexpression of LINE-1 (L1) elements is recognized as a hallmark of many cancers, yet their activity and the number of somatic LINE-1 retrotranspositions (soL1Rs) vary markedly across tumor types. Despite their ubiquity in certain cancers, such as esophageal and colorectal carcinomas, …
kr, gb, us
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
David Lehotzky, Ron Solan, Antonia Kowalewski, Nick Haradhvala et autres
Abstract Cancer driver genes are oncogenes and tumor suppressor genes whose changes in function or expression promotes tumorigenesis. They are used to study cancer behavior, to classify cancer types, and to guide precision medicine. Cancer driver genes are usually identified by statistical …
us
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Luis Antonio Corchete Sanchez, Chunyang Bao, Saveliy Belkin, AD Cherniack et autres
Abstract Background: Despite the well-documented male bias in the incidence and mortality of most non-sex-specific cancers, the Y chromosome (chrY) remains as a genomic blind spot. Major pan-cancer genomic consortia, including The Cancer Genome Atlas (TCGA) and PCAWG, have historically excluded the …
us, gb
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Ryul Kim, Chunyang Bao, Hansol Park, Gang-Hee Lee et autres
Abstract The systematic identification of therapeutically actionable genomic alterations across tumor types is essential to advance precision oncology. Using the CancerVisionTM whole-genome analysis platform, we analyzed >8,000 whole-genome sequencing (WGS) samples spanning more than 30 cancer types to characterize clinically actionable mutations. …
us, kr
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Gengchao Wang, David I. Heiman, Vasuki Narasimha Swamy, Chip Stewart et autres
Abstract Background: The initial TCGA exome sequencing project established a foundational catalog of somatic mutations. However, capture biases and limited coverage in GC-rich and repetitive regions may have obscured bona fide driver events and introduced systematic “blind spots” in the landscape of …
us, gb
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Chunyang Bao, Hansol Park, Gang-Hee Lee, Ryul Kim et autres
Abstract Cancer arises from the progressive accumulation of genomic alterations. The Cancer Genome Atlas (TCGA), a landmark consortium project, has comprehensively characterized 33 cancer types through multi-omics profiling of over 11,000 tumor-normal pairs. However, most TCGA-based studies had relied on whole-exome sequencing …
gb, kr, us
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Youyun Zheng, Gregory Raskind, Sophie Webster, Narmen Azazmeh et autres
Abstract Double-strand break repair leaves recognizable footprints in the genome. Among the most specific are short sequences inserted at structural-variant (SV) junctions—templated insertions often attributed to polymerase-θ-mediated end joining (TMEJ). Yet common readouts based on exact string matches overlook sequence background, distance …
us
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Elizabeth E. Martin, Julian Hess, Carrie Cibulskis, Mendy Miller et autres
Abstract Comprehensively modeling tumor evolution is important for cancer diagnosis, treatment, and minimal residual disease (MRD) monitoring. Liquid biopsies enable non-invasive sampling of tumor DNA during a patient’s cancer treatment. Accurate detection of low allele fraction somatic variants in circulating tumor DNA …
us, il
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Lyns Etienne, Elizabeth E. Martin, Pinar Eser, Kiara Pontious et autres
Abstract Non-small cell lung cancer (NSCLC) is characterized by oncogene addiction, where unique genetic, epigenetic, and transcriptomic alterations drive tumor initiation, growth, and survival. Tyrosine kinase inhibitors (TKIs) against actionable oncogenes showed initial promise, but acquired resistance remain significant clinical challenges. To …
us
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Chunyang Bao, Matthew Leventhal, Hansol Park, Gang-Hee Lee et autres
Abstract Whole-chromosome and segmental copy-number changes are nearly ubiquitous in human cancers. Here, we present the first pan-cancer landscape of haplotype-specific somatic copy number alterations (SCNAs) in nearly 9,000 cancers across 30 cancer types from The Cancer Genome Atlas (TCGA) whole-genome sequencing …
gb, us, kr
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Ryul Kim, Owen Hirschi, Matthew Leventhal, Chunyang Bao et autres
Abstract The goal of The Cancer Genome Atlas (TCGA) has been to continually characterize the genomic and transcriptomic landscapes across diverse malignancies. In this analysis, we assess matched tumor-normal Whole-Genome Sequencing (WGS) data from a previously sequenced set of adult cancer patients …
us, kr
(code pays fourni par la source)
2026
conference-abstract
OpenAlex
Antonia Kowalewski, Xavi Loinaz, Hansol Park, Vasuki Narasimha Swamy et autres
Abstract Structural variants (SVs)—large-scale genomic deletions, duplications, inversions, and translocations—can promote tumorigenesis by activating proto-oncogenes, disrupting tumor suppressors, generating oncogenic fusions, rewiring gene regulation, and mediating catastrophic events such as chromoplexy and chromothripsis. Yet, the role of SVs as cancer-driving mutations remains …
us, gb
(code pays fourni par la source)