Alzheimer's disease (AD) is a progressive neurodegenerative disorder, neuropathologically
characterized by amyloid-β (Aβ) plaques and hyperphosphorylated tau accumulation. AD …

Tau protein can transfer between neurons transneuronally and trans-synaptically, which is
thought to explain the progressive spread of tauopathy observed in the brain of patients with …

Protein-truncating variants in the breast cancer susceptibility gene CHEK2 are associated
with a moderately increased risk of breast cancer. By contrast, for missense variants of …

DNA interstrand crosslinks (ICLs), highly toxic lesions that covalently link the Watson and
Crick strands of the double helix, are repaired by a complex, replication-coupled pathway in …

Heterozygous carriers of germline loss-of-function variants in the tumor suppressor gene
checkpoint kinase 2 (CHEK2) are at an increased risk for developing breast and other …

Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2
are at a highly increased lifetime risk for developing breast cancer. While truncating variants …

XPF‐ERCC 1 is a structure‐specific endonuclease pivotal for several DNA repair pathways
and, when mutated, can cause multiple diseases. Although the disease‐specific mutations …

In recent years it has become clear that pathogenic variants in PALB2 are associated with a
high risk for breast, ovarian and pancreatic cancer. However, the clinical relevance of …

A key step in the Fanconi anemia pathway of DNA interstrand crosslink (ICL) repair is the
ICL unhooking by dual endonucleolytic incisions. SLX4/FANCP is a large scaffold protein …

Background Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2
(PALB2) confer increased risk to breast cancer, but relatively few studies have reported the …