Background RECQL4 helicase is essential for homologous recombination repair and DNA replication. Germ-line mutations in RECQL4 causes type II Rothmund-Thomson syndrome (RTS) characterised by a premature aging phenotype and cancer predisposition. The RECQL4 gene is localized to chromosome 8q24, a site frequently amplified in breast cancers. However, the clinicopathological significance of RECQL4 in breast cancer is largely unknown. Method We evaluated gene copy number changes and mRNA expression in 1950 tumours and validated externally in 3826 tumours.
Artificial neural network (ANN) analysis of 48,803 probes was conducted in 1950 tumours. RECQL4 protein level was investigated in 1974 tumours. Breast cancer incidence was investigated in 58 type II RTS patients as well as in Recql4 knockout mice. A panel of RECQL4 depleted breast cancer cell lines were evaluated by DNA repair fiber…
