Ralph Scully

ssDNA hand-off from RPA to Polθ drives microhomology-mediated end-joining

The paper reveals that RPA activates TMEJ by facilitating ssDNA hand-off to Polθ, which initiates microhomology search for DNA repair.

Replication fork directionality reveals how structural variants arise under replication stress

The paper identifies a novel mechanism for large tandem duplications in cancer by analyzing replication fork directionality and develops a classifier to distinguish SV phenotypes based on replication features.

Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality

The paper shows that defective BRCA1-mediated DNA end resection leads to Group 1 tandem duplication formation and FANCM synthetic lethality in mouse models.

Cohesin drives chromatin scanning during the RAD51-mediated homology search.

The paper shows cohesin-driven chromatin loop extrusion facilitates homology search during RAD51-mediated DNA repair in mammalian cells.

A novel DNA repair protein, N-Myc downstream regulated gene 1 (NDRG1), links stromal tumour microenvironment to chemoresistance

This study identifies NDRG1 as a DNA repair protein that links pancreatic cancer stroma to chemoresistance by enhancing DNA damage repair through R-loop resolution.

Two-ended recombination at a Flp-nickase-broken replication fork

This study investigates Flp-nickase-induced homologous recombination, revealing two-ended repair mechanisms and their dependence on BRCA1 and BRCA2/RAD51.

FANCM regulates repair pathway choice at stalled replication forks

This study identifies FANCM's role in regulating repair pathway choice at stalled replication forks and highlights its ATPase function as a potential therapeutic target for BRCA1 mutant cancers.

Genomic footprints of activated telomere maintenance mechanisms in cancer

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

Spatial Genome Organization as a Framework for Somatic Alterations in Human Cancer

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The Tandem Duplicator Phenotype is a prevalent genome-wide cancer configuration driven by distinct gene mutations

The paper identifies three span intervals of tandem duplications in TDP tumors and links them to specific gene mutations and pathways, showing TP53 and BRCA1 loss drives short-span TDPs.