RECQL4

Last update 08 May 2025

Basic Info

Synonyms

ATP-dependent DNA helicase Q4, DNA helicase, RecQ-like type 4, RecQ like helicase 4

+ [4]

Introduction

An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661).

100 Clinical Results associated with RECQL4

100 Translational Medicine associated with RECQL4

0 Patents (Medical) associated with RECQL4

417

Literatures (Medical) associated with RECQL4

01 Apr 2025·Cancer Genetics

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review

Review

Author: Cheng, Shirley Sze Wing ; Fu, Eric Chun Ho ; Liu, Anthony Pak Yin ; Ho, Stephanie Ka Lun ; Tong, Grace Pui Yung ; Leung, Lai-Ting ; Lo, Ivan Fai Man ; Luk, Ho-Ming

Rothmund-Thomson syndrome (RTS) is a multisystemic tumour-predisposing genodermatosis caused by biallelic pathogenic alterations in the ANAPC1 gene or RECQL4 gene. Herein we describe the clinical and genetic findings in three individuals with molecularly substantiated RECQL4-related RTS. Based on the disease course of two patients with osteosarcoma, we highlight the critical importance of early diagnosis.

01 Mar 2025·Pigment Cell & Melanoma Research

Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants

Article

Author: Kennedy, Lucy Boyce ; Arbesman, Joshua ; Funchain, Pauline ; Arbesman, Michelle ; Ribaudo, Isabella ; Ko, Jennifer ; Isaacs, James ; Ni, Ying ; Truong, Thach‐Giao

ABSTRACTMucosal melanomas (MM) are rare but aggressive malignancies, comprising only 1.3% of all melanoma diagnoses, with a poor 5‐year survival rate below 20%. MM lacks identifiable risk factors, presents with distinct mutational profiles, and is often diagnosed at an advanced stage, contributing to worse outcomes. This study explores the prevalence of pathogenic germline variants associated with melanoma and general cancer susceptibility in a cohort of 16 MM patients enrolled in the Gross Family Melanoma Registry at Cleveland Clinic between 2017 and 2023. Germline testing was performed using an ≥ 81 gene panel, including 12 genes with established or preliminary melanoma predisposition evidence. Our findings reveal a high prevalence (50%) of pathogenic germline variants among MM patients, with CHEK2 and APC variants identified in 12.5% of cases each, and individual variants detected in MUTYH, ATM, RB1, and RECQL4. These results suggest a germline‐driven cancer susceptibility in MM, exceeding the 15% prevalence observed in cutaneous melanoma using the same inclusion criteria.

01 Mar 2025·ESMO Open

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing

Article

Author: Walsh, R J ; Lim, J S J ; Lim, Y W ; Wong, A L A ; Lim, S E ; Wong, J E-L ; Chan, G H J ; Ong, P Y ; Zhao, J J ; Ow, C J L ; Lee, S C ; Cheo, S W ; Ow, S G W

BACKGROUNDMultiple primary cancers (MPC) are an indicator of potential hereditary cancer predisposition syndrome. There remains insufficient data on genetic testing outcomes and the optimal testing panel for MPC. We evaluated the prevalence of MPC, the spectrum of pathogenic germline variants (PGVs) and the role of extended panel testing in MPC.METHODSCancer patients seen in a cancer genetics clinic in a tertiary cancer centre in Singapore from 2000 to 2023 were included. Clinical characteristics, PGV and patterns of cancer were analysed. Most patients were tested with 49 genes, but in a selected 156 patients with MPC, extended testing with 216 genes was carried out.RESULTSOf 3514 cancer patients (male = 17.9%, female = 82.1%), 668 (19%) had MPC (2 primaries, n = 570; 3 primaries, n = 81; ≥4 primaries, n = 17). The most common tumour pairs were breast-breast (33.2%), breast-ovary (8.9%), breast-endometrial (4.6%) and endometrial-ovary (4.6%). Patients with MPC had a younger median age of first cancer. Of the MPC patients, 29.4% tested positive for at least one PGV, with PGVs detected in BRCA1/2 (39.9%), other homologous recombination repair (HRR) genes (18.9%), mismatch repair (MMR) genes (11.2%) and TP53 (7%) genes. HRR genes included ATM, BARD1, BRIP1, CHEK2, PALB2, FANCL, RAD51C and RAD51D, while MMR genes included MLH1, MSH2, MSH6 and PMS2. MPC patients were more likely to have PGVs in TP53 and BARD1 compared with patients with single primary cancer. Extended testing detected more PGVs in MPC despite initial noninformative testing. It increased the number of PGVs detected in less established cancer predisposition genes, which include CFTR, SPINK1, TNFRSF13B, TET2, ADA, CDKN1C, CTNNA1, DDX41, HAX1, RECQL4 and MBD4.CONCLUSIONPatients with MPC were more likely to harbour a PGV. Extended testing improved PGV detection rates, particularly for less well-known cancer predisposition genes.

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