Aneuploidy and complex genomic rearrangements in cancer evolution

TM Baker, S Waise, M Tarabichi, P Van Loo - Nature cancer, 2024 - nature.com
Mutational processes that alter large genomic regions occur frequently in developing
tumors. They range from simple copy number gains and losses to the shattering and …

Mechanisms of genomic instability in breast cancer

PHG Duijf, D Nanayakkara, K Nones, S Srihari… - Trends in molecular …, 2019 - cell.com
Breast cancer is the most common cancer among women globally. Genomic instability (GI)
refers to the increased tendency to accrue genomic alterations. It drives heterogeneity and is …

Expandable and reversible copy number amplification drives rapid adaptation to antifungal drugs

RT Todd, A Selmecki - Elife, 2020 - elifesciences.org
Previously, we identified long repeat sequences that are frequently associated with genome
rearrangements, including copy number variation (CNV), in many diverse isolates of the …

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

A Ferrari, A Vincent-Salomon, X Pivot, AS Sertier… - Nature …, 2016 - nature.com
HER2-positive breast cancer has long proven to be a clinically distinct class of breast
cancers for which several targeted therapies are now available. However, resistance to the …

Multi-omic cross-sectional cohort study of pre-malignant Barrett's esophagus reveals early structural variation and retrotransposon activity

AC Katz-Summercorn, S Jammula, A Frangou… - Nature …, 2022 - nature.com
Barrett's esophagus is a pre-malignant lesion that can progress to esophageal
adenocarcinoma. We perform a multi-omic analysis of pre-cancer samples from 146 patients …

Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism

AM Al-Zain, MR Nester, I Ahmed… - Nature communications, 2023 - nature.com
Inverted duplications, also known as foldback inversions, are commonly observed in
cancers and are the major class of chromosome rearrangement recovered from yeast cells …

Mammalian keratin associated proteins (KRTAPs) subgenomes: disentangling hair diversity and adaptation to terrestrial and aquatic environments

I Khan, E Maldonado, V Vasconcelos, SJ O'Brien… - BMC genomics, 2014 - Springer
Background Adaptation of mammals to terrestrial life was facilitated by the unique vertebrate
trait of body hair, which occurs in a range of morphological patterns. Keratin associated …

Mre11-Sae2 and RPA collaborate to prevent palindromic gene amplification

SK Deng, Y Yin, TD Petes, LS Symington - Molecular cell, 2015 - cell.com
Foldback priming at DNA double-stranded breaks is one mechanism proposed to initiate
palindromic gene amplification, a common feature of cancer cells. Here, we show that small …

Next generation sequencing technology in the clinic and its challenges

LK Vestergaard, DNP Oliveira, CK Høgdall, EV Høgdall - Cancers, 2021 - mdpi.com
Simple Summary Precise identification and annotation of mutations are of utmost importance
in clinical oncology. Insights of the DNA sequence can provide meaningful knowledge to …

Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data

A Alkodsi, R Louhimo, S Hautaniemi - Briefings in bioinformatics, 2015 - academic.oup.com
Somatic copy-number alterations (SCNAs) are an important type of structural variation
affecting tumor pathogenesis. Accurate detection of genomic regions with SCNAs is crucial …