Advances in sequencing have revealed a highly variegated landscape of mutational
signatures and somatic driver mutations in a range of normal tissues. Normal tissues …

Chromosomal structural variation (SV) encompasses a heterogenous class of genetic
variants that exerts strong influences on human health and disease. Despite their …

DNA repair defects underlie many cancer syndromes. We tested whether de novo germline
mutations (DNMs) are increased in families with germline defects in polymerase …

Abstract Objective Copy number variations (CNVs) play crucial roles in physiological and
pathological processes, including cancer. However, the functional implications of somatic …

Epithelial ovarian cancer (EOC) is one of the most prevalent gynaecological cancers
worldwide. The molecular mechanisms of serous ovarian cancer (SOC) remain unclear and …

The physiological activities of selenium (Se) occur through enzymes that incorporate
selenocysteine (Sec), a rare but important amino acid. The human genome includes 25 …

Abstract The 2022 Annual Review Issue of The Journal of Pathology, Recent Advances in
Pathology, contains 15 invited reviews on research areas of growing importance in …

Few neoepitopes detected in tumor biopsies are immunogenic. Tumor-specific T cell
responses require both the presentation of an epitope that differs from wildtype and the …

Cancers are the product of evolutionary events, where molecular variation occurs and
accumulates in tissues and tumors. Sequencing of this molecular variation informs not only …

Reactive oxygen species (ROS) are a major threat to genomic integrity and believed to be
one of the etiologies of cancers. Here we developed a cell-free system to analyze ROS …