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Clinical prospects of WRN inhibition as a treatment for MSI tumours
The discovery of synthetic lethal interactions with genetic deficiencies in cancers has highlighted several candidate targets for drug development,...
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The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome
PurposeWerner syndrome (WS) is a rare autosomal recessive genetic disease caused by mutations in the WRN gene, and it is characterized by multiple...
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Sclerosing epithelioid fibrosarcoma associated with WRN gene variant presenting as chronic dyspnea and pathologic cervical fracture: a case report and review of the literature
BackgroundSclerosing epithelioid fibrosarcoma is an aggressive sarcoma subtype with poor prognosis and limited response to conventional chemotherapy...
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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features,...
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Genetic predictors of neurocognitive outcomes in survivors of pediatric brain tumors
BackgroundNeurocognitive deficits are common in pediatric brain tumor survivors. The use of single nucleotide polymorphism (SNP) analysis in DNA...
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MDM2-mediated degradation of WRN promotes cellular senescence in a p53-independent manner
MDM2 (Murine double minute 2) acts as a key repressor for p53-mediated tumor-suppressor functions, which includes cellular senescence. We found that...
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A new wave of innovations within the DNA damage response
Genome instability has been identified as one of the enabling hallmarks in cancer. DNA damage response (DDR) network is responsible for maintenance...
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Cell line models for drug discovery in PIK3CA-mutated colorectal cancers
Colorectal cancer remains a major cause of cancer-related morbidity and mortality. Metastatic disease is still incurable in most cases. New therapies...
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Potent therapeutic strategy in gastric cancer with microsatellite instability-high and/or deficient mismatch repair
Gastric cancer (GC) is a common malignancy that presents challenges in patient care worldwide. The mismatch repair (MMR) system is a highly conserved...
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Progeroide Syndrome
Progeroid syndromes (PSs) are characterized by the premature onset of age-related pathologies. PSs display a wide range of heterogeneous pathological...
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Targeting ATR in patients with cancer
Pharmacological inhibition of the ataxia telangiectasia and Rad3-related protein serine/threonine kinase (ATR; also known as FRAP-related protein...
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TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway
BackgroundThis study aimed to investigate the underlying molecular mechanisms of TRIM58 in the development of colorectal cancer (CRC). CRC is one of...
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Loss of p53 suppresses replication stress-induced DNA damage in ATRX-deficient neuroblastoma
Genetic aberrations are present in the ATRX gene in older high-risk neuroblastoma (NB) patients with very poor clinical outcomes. Its...
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Understanding the Impact of Obesity on Ageing in the Radiance of DNA Metabolism
Ageing is a multi-factorial phenomenon which is considered as a major risk factor for the development of neurodegeneration, osteoporosis,...
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Overview of familial syndromes with increased skin malignancies
The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte...
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Sirtuins in atherosclerosis: guardians of healthspan and therapeutic targets
Sirtuins are NAD + -dependent deacetylase and deacylase enzymes that control important cellular processes, including DNA damage repair, cellular...
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Coronary artery disease and cancer: a significant resemblance
Cancer and coronary artery disease (CAD) are two of the most common causes of death, and they frequently coexist, especially as the world’s...
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A CRISPR knockout screen reveals new regulators of canonical Wnt signaling
The Wnt signaling pathways play fundamental roles during both development and adult homeostasis. Aberrant activation of the canonical Wnt signal...
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Targeting CDK1 in cancer: mechanisms and implications
Cyclin dependent kinases (CDKs) are serine/threonine kinases that are proposed as promising candidate targets for cancer treatment. These proteins...
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RNF8 ubiquitinates RecQL4 and promotes its dissociation from DNA double strand breaks
Ubiquitination-dependent DNA damage response (DDR) signals play a critical role in the cellular choice of DNA damage repair pathways. Human DNA...
