DNA helicases and their roles in cancer

S Dhar, A Datta, RM Brosh Jr - DNA repair, 2020 - Elsevier
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 …

[HTML][HTML] RECQ1 helicase in genomic stability and cancer

S Debnath, S Sharma - Genes, 2020 - mdpi.com
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 …

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

B Abu-Libdeh, SS Jhujh, S Dhar, JA Sommers… - The Journal of clinical …, 2022 - jci.org
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 …

[HTML][HTML] Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

SM Rowley, L Mascarenhas, L Devereux, N Li… - Genetics in …, 2019 - Elsevier
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 …

Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer

N Li, S McInerny, M Zethoven… - JNCI: Journal of the …, 2019 - academic.oup.com
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 …

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 …

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 …

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

KA Metcalfe, SA Narod, A Eisen, A Poll… - Cancer …, 2023 - Wiley Online Library
Background Knowledge of pathogenic variants in cancer‐predisposing genes is important
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 …

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma

JL Maciaszek, N Oak, W Chen… - Molecular …, 2019 - molecularcasestudies.cshlp.org
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 …