The multifaceted role of autophagy in cancer
RC Russell, KL Guan - The EMBO journal, 2022 - embopress.org
Autophagy is a cellular degradative pathway that plays diverse roles in maintaining cellular
homeostasis. Cellular stress caused by starvation, organelle damage, or proteotoxic …
homeostasis. Cellular stress caused by starvation, organelle damage, or proteotoxic …
Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand
breaks in mammalian cells, the defining step of which is homologous strand exchange …
breaks in mammalian cells, the defining step of which is homologous strand exchange …
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …
relationships has rapidly expanded. However, the evidence supporting these claims varies …
53BP1 mediates productive and mutagenic DNA repair through distinct phosphoprotein interactions
E Callen, M Di Virgilio, MJ Kruhlak, M Nieto-Soler… - Cell, 2013 - cell.com
The DNA damage response (DDR) protein 53BP1 protects DNA ends from excessive
resection in G1, and thereby favors repair by nonhomologous end-joining (NHEJ) as …
resection in G1, and thereby favors repair by nonhomologous end-joining (NHEJ) as …
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden
Cancers harbor many somatic mutations and germline variants, we hypothesized that the
combined effect of germline variants that alter the structure, expression, or function of protein …
combined effect of germline variants that alter the structure, expression, or function of protein …
BRCA1-Dependent and independent recruitment of PALB2–BRCA2–RAD51 in the DNA damage response and Cancer
Abstract The BRCA1–PALB2–BRCA2 axis plays essential roles in the cellular response to
DNA double-strand breaks (DSB), maintenance of genome integrity, and suppression of …
DNA double-strand breaks (DSB), maintenance of genome integrity, and suppression of …
BRCA1 haploinsufficiency is masked by RNF168-mediated chromatin ubiquitylation
D Zong, S Adam, Y Wang, H Sasanuma, E Callén… - Molecular cell, 2019 - cell.com
BRCA1 functions at two distinct steps during homologous recombination (HR). Initially, it
promotes DNA end resection, and subsequently it recruits the PALB2 and BRCA2 mediator …
promotes DNA end resection, and subsequently it recruits the PALB2 and BRCA2 mediator …
BRCA1 mutation-specific responses to 53BP1 loss-induced homologous recombination and PARP inhibitor resistance
BRCA1 functions in homologous recombination (HR) both up-and downstream of DNA end
resection. However, in cells with 53BP1 gene knockout (KO), BRCA1 is dispensable for the …
resection. However, in cells with 53BP1 gene knockout (KO), BRCA1 is dispensable for the …
Autophagy Opposes p53-Mediated Tumor Barrier to Facilitate Tumorigenesis in a Model of PALB2-Associated Hereditary Breast Cancer
Y Huo, H Cai, I Teplova, C Bowman-Colin, G Chen… - Cancer discovery, 2013 - AACR
Hereditary breast cancers stem from germline mutations in susceptibility genes such as
BRCA1, BRCA2, and PALB2, whose products function in the DNA damage response and …
BRCA1, BRCA2, and PALB2, whose products function in the DNA damage response and …
Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2
Missense variants in the BRCA 2 gene are routinely detected during clinical screening for
pathogenic mutations in patients with a family history of breast and ovarian cancer. These …
pathogenic mutations in patients with a family history of breast and ovarian cancer. These …