rs73569323

This is a downstream gene variant variant in the MAF gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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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
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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 MAF

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

View all MAF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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