Although it has long been recognized that the exonucleolytic proofreading activity intrinsic to
the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA …

The evolutionarily conserved human polymerase delta (POLD1) gene encodes the large
p125 subunit which provides the essential catalytic activities of polymerase δ (Polδ) …

Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …

Pathogenic germline exonuclease domain (ED) variants of POLE and POLD1 cause the
Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We …

The fidelity of DNA replication relies on three error avoidance mechanisms acting in series:
nucleotide selectivity of replicative DNA polymerases, exonucleolytic proofreading, and post …

Simple Summary In general, 5–20% of all cancers are due to pathogenic variants in cancer
genes that are passed down in the family. It is recommended that blood relatives of …

Germline and somatic TP53 variants play a crucial role during tumorigenesis. However,
genetic variations that solely affect the alternatively spliced p53 isoforms, p53β and p53γ …

Colorectal cancer (CRC), one of the most common cancers, is a major public health issue
globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to …

It is now well established that germline genomic aberrations can underlie high‐penetrant
familial polyposis and colorectal cancer syndromes, but a genetic cause has not yet been …

Colorectal cancer (CRC), is mostly derived from normal colon epithelial cells, and has been
reported to be one of most common gastrointestinal malignancies globally. An increasing …