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DNA helicases and their roles in cancer
DNA helicases, known for their fundamentally important roles in genomic stability, are high
profile players in cancer. Not only are there monogenic helicase disorders with a strong …
profile players in cancer. Not only are there monogenic helicase disorders with a strong …
[HTML][HTML] RECQ1 helicase in genomic stability and cancer
RECQ1 (also known as RECQL or RECQL1) belongs to the RecQ family of DNA helicases,
members of which are linked with rare genetic diseases of cancer predisposition in humans …
members of which are linked with rare genetic diseases of cancer predisposition in humans …
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 …
[HTML][HTML] Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility
Purpose The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene
variants through family cancer history alone is suboptimal, and most population-based …
variants through family cancer history alone is suboptimal, and most population-based …
Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer
Background Loss-of-function variants in RAD51C are associated with familial ovarian
cancer, but its role in hereditary breast cancer remains unclear. The aim of this study was to …
cancer, but its role in hereditary breast cancer remains unclear. The aim of this study was to …
Principles of molecular testing for hereditary cancer
C Mighton, JP Lerner‐Ellis - Genes, Chromosomes and Cancer, 2022 - Wiley Online Library
Molecular testing for hereditary cancers has rapidly advanced over the past two decades.
Next‐generation sequencing has been widely adopted, which has made molecular testing …
Next‐generation sequencing has been widely adopted, which has made molecular testing …
RecQ helicase somatic alterations in cancer
MK Thakkar, J Lee, S Meyer, VY Chang - Frontiers in Molecular …, 2022 - frontiersin.org
Named the “caretakers” of the genome, RecQ helicases function in several pathways to
maintain genomic stability and repair DNA. This highly conserved family of enzymes consist …
maintain genomic stability and repair DNA. This highly conserved family of enzymes consist …
Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
Background Knowledge of pathogenic variants in cancer‐predisposing genes is important
when making breast cancer treatment decisions, but genetic testing is not universal and …
when making breast cancer treatment decisions, but genetic testing is not universal and …
Germline RECQL gene mutations in Chinese patients with breast cancer
J Hu, Y Shen, K Zhang, Y Chen - Frontiers in Medicine, 2024 - frontiersin.org
Introduction Breast cancer is the most common malignant tumor in women, seriously
threatening health and survival. TP-dependent DNA helicase Q1 (RECQL) is a breast …
threatening health and survival. TP-dependent DNA helicase Q1 (RECQL) is a breast …
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma
Patients harboring germline pathogenic biallelic variants in genes involved in the
recognition and repair of DNA damage are known to have a substantially increased cancer …
recognition and repair of DNA damage are known to have a substantially increased cancer …