rs1820453

This is a coding sequence variant variant in the YAP1 gene.

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Research that mentions this SNP (1)

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Genetic variation in the Hippo pathway and breast cancer risk in women of African ancestry
AssociationN=3,686Shengfeng Wang et al.(2018)· Molecular Carcinogenesis

This case-control study of 3,686 women of African ancestry (1,657 cases, 2,029 controls) examined 7,086 SNPs across 35 Hippo pathway genes to identify associations with breast cancer risk. The combined effect of genetic variations in the Hippo pathway was significantly associated with estrogen receptor-positive (ER+) breast cancer (pathway-level P = 0.019), with WWC1 as the leading gene. The most significant individual SNP was rs147106204 in WWC1 (OR = 0.53, 95% CI = 0.41-0.70, P adj = 0.025), with five linked SNPs also showing significant associations with ER+ breast cancer risk.

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancer
PubMedDOIMetascience Observatory

About YAP1

This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]

View all YAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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