Hereditary breast and ovarian cancer: new genes in confined pathways
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …
Human RecQ helicases in DNA double-strand break repair
RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and
animals. These helicases play important roles in multiple cellular functions, including DNA …
animals. These helicases play important roles in multiple cellular functions, including DNA …
A population-based study of genes previously implicated in breast cancer
Background Population-based estimates of the risk of breast cancer associated with
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …
Gene-panel sequencing and the prediction of breast-cancer risk
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination
Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways,
including homologous recombination. Here, we report a de novo heterozygous T131P …
including homologous recombination. Here, we report a de novo heterozygous T131P …
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
Despite being the first homolog of the bacterial RecQ helicase to be identified in humans,
the function of RECQL1 remains poorly characterized. Furthermore, unlike other members of …
the function of RECQL1 remains poorly characterized. Furthermore, unlike other members of …
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer
PS Felicio, RS Grasel, N Campacci… - Human …, 2021 - Wiley Online Library
The current study aimed to identify new breast and/or ovarian cancer predisposition genes.
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …
Risk of late-onset breast cancer in genetically predisposed women
PURPOSE The prevalence of germline pathogenic variants (PVs) in established breast
cancer predisposition genes in women in the general population over age 65 years is not …
cancer predisposition genes in women in the general population over age 65 years is not …
Mechanics and single-molecule interrogation of DNA recombination
The repair of DNA by homologous recombination is an essential, efficient, and high-fidelity
process that mends DNA lesions formed during cellular metabolism; these lesions include …
process that mends DNA lesions formed during cellular metabolism; these lesions include …
A new sub‐pathway of long‐patch base excision repair involving 5′ gap formation
J Woodrick, S Gupta, S Camacho… - The EMBO …, 2017 - embopress.org
Base excision repair (BER) is one of the most frequently used cellular DNA repair
mechanisms and modulates many human pathophysiological conditions related to DNA …
mechanisms and modulates many human pathophysiological conditions related to DNA …