rs2277509

This variant is located in the CCDC88C gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

prostate carcinoma, breast carcinoma, ovarian carcinoma

Kar SP et al. “Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.” Cancer Discovery 6(9):1052-67 (2016)

Allele A

OR 0.05

p 9.0e-12

N 237,334

Large GWAS

European

breast cancer, ovarian carcinoma

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)

Allele C

OR —

p 2.0e-11

N 295,401

Meta-analysisLarge GWAS

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40; not provided

View on ClinVar →

About CCDC88C

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]