What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 33 publications.
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Sample genotype (not yours): G/G
Increased Risk of Prostate Cancer
A moderately increased risk of prostate cancer is associated with this genetic profile. The variant acts by enhancing the expression of a distant oncogene involved in prostate cell growth.
What this genotype means: Moderately increased risk of prostate cancer; Upregulation of the SOX9 oncogene via enhancer looping.
Sample genotype (not yours): G/T
Typical Risk of Prostate Cancer
A typical baseline risk of prostate cancer is expected with this heterozygous profile. The single G allele is generally not enough to significantly elevate risk under recessive models.
What this genotype means: Typical baseline risk of prostate cancer; Normal regulation of the SOX9 oncogene.
Sample genotype (not yours): T/T
A typical baseline risk of prostate cancer is associated with this genetic profile. This genotype lacks the risk-increasing G allele, maintaining normal regulatory activity.
What this genotype means: Typical baseline risk of prostate cancer; Baseline regulation of the SOX9 oncogene.
Gene function and biological role
Gene Function: The CASC17 gene, also known as cancer susceptibility 17, is a non-coding RNA gene located on chromosome 17q24.3 [1]. It is highly studied for its role in genetic predisposition to prostate cancer [1] [2]. Rather than encoding a protein, CASC17 produces long non-coding RNA transcripts that help regulate the expression of nearby genes [2]. This genomic region acts as a crucial regulatory hub, where variations can alter chromatin structure and long-range interactions with oncogenes [3].
Variant Impact: The rs1859962 variant is an intron variant located within the CASC17 gene on chromosome 17q24.3 [1]. Although it lies in a relatively gene-poor region, this variant is situated within a specialized enhancer element [3]. This enhancer forms a long-range chromatin loop that physically contacts and regulates the SOX9 gene, a key developmental regulator and oncogene located about one megabase away [3]. The risk-associated G allele alters transcription factor binding within this enhancer, leading to increased activity and upregulation of SOX9 [3]. This molecular change contributes to an increased susceptibility to prostate cancer [1] [4].
Key Insight: This variant does not change a protein directly; instead, it lies in a gene desert and controls the SOX9 oncogene from a massive distance of one million base pairs away via a 3D DNA loop.
Location: CASC17. Chromosome 17 · 17q24.3 · 71.1 Mb
Estimated prevalence by population
Global 20.1%; European 23.0%; African 9.4%; East Asian 14.1%; South Asian 30.5%; Americas 28.8%; Ashkenazi 30.3%; Finnish 25.1%; Middle Eastern 25.7%; Amish 19.5%.
Estimated GG genotype frequency.
Global 47.7%; European 49.9%; African 42.5%; East Asian 46.9%; South Asian 49.5%; Americas 49.7%; Ashkenazi 49.5%; Finnish 50.0%; Middle Eastern 50.0%; Amish 49.3%.
Estimated GT genotype frequency.
Global 32.2%; European 27.1%; African 48.1%; East Asian 38.9%; South Asian 20.0%; Americas 21.5%; Ashkenazi 20.2%; Finnish 24.9%; Middle Eastern 24.3%; Amish 31.1%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 17603485. ~1.28x Increased Risk.
Organ Systems
Respiratory Health
Lung Function. Evidence: 6/10. Source: PMID 30175238. Slightly Higher FEV.
Showing effects for G/T genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 17603485. Typical Risk.
Lung Function. Evidence: 6/10. Source: PMID 30175238. Typical FEV.
Showing effects for T/T genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
An estimated 1.28-fold increase in the risk of developing prostate cancer is linked to this specific genetic profile [1]. This genetic variant is located within an enhancer region that regulates the SOX9 gene, which is crucial for prostate development and cell survival [2]. The G allele increases the binding of specific transcription factors, driving higher expression of this oncogene [2]. Multiple large-scale genome-wide association studies across diverse populations have confirmed this association [3] [4]. While this genotype contributes to elevated risk, it is only one of many genetic and lifestyle factors that influence overall prostate health [1] [4].
Moderately increased risk of prostate cancer; Upregulation of the SOX9 oncogene via enhancer looping.
Sample genotype: GT (Heterozygous)
A typical baseline risk for prostate cancer is observed in most clinical models for this heterozygous profile [1]. While the G allele is associated with increased risk when present in two copies, a single copy of the risk allele typically does not show a significant elevation in risk compared to the general population [1] [2]. This suggests a recessive or threshold-like effect where a single copy of the risk allele does not substantially alter enhancer activity or SOX9 expression [3]. Large multiethnic studies support this baseline risk classification across various ancestries [4]. Maintaining routine screening and healthy lifestyle habits remains the standard recommendation for overall prostate health [1] [4].
Typical baseline risk of prostate cancer; Normal regulation of the SOX9 oncogene.
Sample genotype: TT (Homozygous)
A typical baseline risk of developing prostate cancer is expected for this genetic profile [1]. Without the risk-increasing G allele, the enhancer region maintains normal regulatory control over the distant SOX9 gene [2]. This baseline status has been consistently demonstrated across multiple genome-wide association studies and replication cohorts [3] [4]. Because prostate cancer is a complex disease influenced by many factors, having a typical genetic risk at this locus does not eliminate the possibility of developing the condition [1]. Standard age-appropriate screening and preventive care remain important [1] [4].
Typical baseline risk of prostate cancer; Baseline regulation of the SOX9 oncogene.
Variants with shared genetic architecture
rs10486567 · JAZF1 Gene · Chr 7 · Prostate Cancer Risk
rs10505477 · CASC8 Gene · Chr 8 · Cancer Susceptibility Risk
rs10774214 · CCND2-AS1 Gene · Chr 12 · Colorectal Cancer Risk
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations.
Content updated August 2026.
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