rs10808556

This is a regulatory region variant variant in the CASC8 gene.

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GWAS Catalog Trait Associations (1)

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

colorectal cancer

Laskar RS et al. “Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.” Annals of Oncology : Official Journal of the European Society for Medical Oncology 35(6):523-536 (2024)
Allele C
OR 1.14
p 3.0e-10
N 72,005
Large GWAS
European
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Research that mentions this SNP (2)

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Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations
AssociationN=3,187Margaret A. Gates et al.(2009)· International Journal of Cancer

This case-control study examined whether seven breast cancer susceptibility alleles (in FGFR2, TNRC9, MAP3K1, LSP1, and chromosomal regions 8q24 and 2q35) were associated with epithelial ovarian cancer risk. The pooled analysis of 1,383 ovarian cancer cases and 1,804 controls found no significant associations between these variants and ovarian cancer risk, with OR estimates for FGFR2 rs1219648 of 1.06 (95% CI=0.95-1.18) and rs2981582 of 1.04 (95% CI=0.93-1.15), suggesting that breast cancer risk alleles may be specific to breast cancer.

Traits studied:Breast cancerEpithelial ovarian cancer
PubMedDOIMetascience Observatory
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers
MethodsN=79Meredith Yeager et al.(2008)· Human Genetics

This comprehensive resequence analysis of a 136 kb region of chromosome 8q24 (chr8: 128,473,000-128,609,802) using 454 next-generation sequencing identified 442 novel SNPs and characterized the complete catalog of common variation across regions previously associated with prostate and colorectal cancer risk by GWAS. The study identified 780 common SNPs, with 454 having MAF ≥5%, and determined that 114 tag SNPs are necessary to comprehensively tag the region (r² > 0.8), providing important resources for fine-mapping association signals marked by rs6983267 and rs1447295.

Traits studied:Breast cancerColorectal cancerProstate cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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