rs11545028

This is a regulatory region variant variant in the WWOX gene.

▶

ClinVar annotation

Benign★★★☆
8 submitters3 publications

Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 1 (DEE1); Developmental and epileptic encephalopathy, 28 (DEE28); not specified

View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Genetic and epigenetic alterations of WWOX in the development of gastric cardia adenocarcinoma
ReviewWei Guo et al.(2013)· Environmental and Molecular Mutagenesis

This comprehensive review examines 25 years of WWOX (WW domain-containing oxidoreductase) research, establishing it as a critical tumor suppressor gene implicated in multiple cancer types including breast, ovarian, liver, pancreatic, and lung cancers. The review highlights key genetic polymorphisms including rs9926344 (associated with hepatocellular carcinoma recurrence), rs11644322 (linked to pancreatic cancer survival with gemcitabine treatment), and rs12918952 (associated with vascular invasion risk in liver cancer), while detailing WWOX's multifaceted roles in inhibiting Wnt/β-catenin signaling, regulating DNA repair, controlling metabolic pathways including the Warburg effect, and modulating microRNA expression to prevent metastasis.

Traits studied:Bladder cancerBreast cancerChronic obstructive pulmonary diseaseEndometrial cancerGastric cancerGlioblastomaHepatocellular carcinomaIntrahepatic cholangiocarcinomaLiver cancerLung cancerMetabolic syndromeNeurodevelopmental disordersOesophageal cancerOsteosarcomaOvarian cancerPancreatic ductal adenocarcinomaProstate cancerUterine cervical cancer
PubMedDOIMetascience Observatory
▶
The polymorphisms and haplotypes of WWOX gene are associated with the risk of lung cancer in southern and eastern chinese populations
ReviewDongsheng Huang et al.(2013)· Molecular Carcinogenesis

This comprehensive 25-year review of WWOX (WW domain-containing oxidoreductase) details its role as a critical tumor suppressor gene in various cancers. WWOX, located at 16q23.3-24.2, inhibits the Wnt/β-catenin pathway and interacts with signaling proteins to regulate cell proliferation, apoptosis, metastasis, and metabolic processes. Multiple WWOX polymorphisms (rs9926344, rs11644322, rs11545028, rs12918952, rs3764340, rs383362, rs73569323) are associated with cancer risk and prognosis across breast, ovarian, endometrial, prostate, lung, esophageal, bladder, liver, pancreatic, and bone cancers.

Traits studied:Acute respiratory distress syndrome (ARDS)Bladder cancerBreast cancerChronic obstructive pulmonary disease (COPD)Endometrial cancerGastric cancerGliomaHepatocellular carcinoma (LIHC)Intrahepatic cholangiocarcinoma (ICC)Liver cancerLung cancerMetabolic syndromeNon-small cell lung cancer (NSCLC)Oesophageal adenocarcinoma (EAC)Oesophageal cancerOesophageal squamous cell carcinoma (ESCC)Oral squamous cell carcinoma (OSCC)OsteosarcomaOvarian cancerPancreatic cancerPancreatic ductal adenocarcinoma (PDAC)Prostate cancerSmall cell lung cancer (SCLC)Triple-negative breast cancer (TNBC)Urothelial carcinoma
PubMedDOIMetascience Observatory

About WWOX

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

View all WWOX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…