What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 57 publications.
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Sample genotype (not yours): C/C
Typical Prostate Cancer Risk
Inheriting the common C allele from both parents is associated with a baseline risk of developing prostate cancer. This genetic profile does not carry the elevated risk linked to the A variant.
What this genotype means: Baseline risk of prostate cancer; Typical regulation of the MYC oncogene.
Sample genotype (not yours): A/A
~1.7x Increased Prostate Cancer Risk
Inheriting the A risk allele from both parents is associated with the highest genetic risk at this locus for developing prostate cancer. This genetic profile significantly impacts the regulation of a key cell growth gene.
What this genotype means: Significantly elevated risk of prostate cancer; Enhanced activation of the MYC oncogene pathway.
Sample genotype (not yours): A/C
~1.4x Increased Prostate Cancer Risk
Inheriting one copy of the A risk allele is associated with a moderately higher risk of developing prostate cancer. This variant influences how a nearby cancer-promoting gene is regulated.
What this genotype means: Moderately elevated risk of prostate cancer; Altered long-range regulation of the MYC oncogene.
Gene function and biological role
Gene Function: The CASC8 gene, located on chromosome 8q24, is a non-coding RNA gene closely linked to cancer susceptibility [1]. This region is historically known as a gene desert but contains critical regulatory elements [2]. These elements act as long-range enhancers that physically interact with the nearby MYC proto-oncogene [2]. Studies show that variations in this genomic neighborhood influence the expression of MYC, a powerful driver of cell proliferation [2]. Consequently, genetic markers within CASC8 are heavily studied for their association with various hormone-sensitive and epithelial cancers [1].
Variant Impact: The rs1447295 variant is an intronic change within the CASC8 gene on chromosome 8q24 [3]. This specific nucleotide substitution alters a key enhancer region that regulates the expression of the MYC oncogene [4]. The risk-associated A allele is linked to increased susceptibility to prostate cancer across multiple diverse populations [3]. Large-scale genetic studies have consistently identified this variant as a major contributor to inherited prostate cancer risk [5]. Researchers have demonstrated that the risk allele is preferentially duplicated or favored in tumor tissues [6].
Key Insight: rs1447295 is located in a gene desert on chromosome 8q24, meaning it does not alter a protein directly but instead acts as a long-range remote control for the powerful MYC oncogene located hundreds of thousands of base pairs away.
Location: CASC8. Chromosome 8 · 8q24.21 · 127.5 Mb
Estimated prevalence by population
Global 3.8%; European 1.0%; African 10.3%; East Asian 2.4%; South Asian 1.7%; Americas 1.1%; Ashkenazi 0.4%; Finnish 3.1%; Middle Eastern 0.3%; Amish 0.9%.
Estimated AA genotype frequency.
Global 26.2%; European 18.2%; African 43.6%; East Asian 26.4%; South Asian 22.6%; Americas 18.7%; Ashkenazi 11.2%; Finnish 29.0%; Middle Eastern 9.7%; Amish 17.5%.
Estimated AC genotype frequency.
Global 70.0%; European 80.8%; African 46.1%; East Asian 71.2%; South Asian 75.8%; Americas 80.2%; Ashkenazi 88.5%; Finnish 67.9%; Middle Eastern 90.1%; Amish 81.6%.
Estimated CC genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 28978014. Typical Risk.
Colorectal Cancer
Colorectal Cancer. Evidence: 6/10. Source: PMID 21455501. Typical Risk.
Gastrointestinal Cancers
Gastric Cancer. Evidence: 6/10. Source: PMID 29232378. Typical Risk.
Lung Cancer
Lung Cancer. Evidence: 6/10. Source: PMID 22848662. Typical Risk.
Showing effects for A/A genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 28978014. ~1.7x Increased Risk.
Colorectal Cancer. Evidence: 6/10. Source: PMID 21455501. Increased Risk.
Gastric Cancer. Evidence: 6/10. Source: PMID 29232378. Increased Risk.
Lung Cancer. Evidence: 6/10. Source: PMID 22848662. Increased Risk.
Showing effects for A/C genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 28978014. ~1.4x Increased Risk.
Colorectal Cancer. Evidence: 6/10. Source: PMID 21455501. Slightly Increased.
Gastric Cancer. Evidence: 6/10. Source: PMID 29232378. Slightly Increased.
Lung Cancer. Evidence: 6/10. Source: PMID 22848662. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Possessing the C/C genotype means you carry the most common genetic sequence at this locus, which is considered the baseline or normal reference [1]. Large-scale genome-wide association studies have consistently shown that individuals with this profile do not have the elevated risk of prostate cancer associated with the A allele [2]. This variant resides in a regulatory region on chromosome 8q24 that acts as an enhancer for the MYC oncogene [3]. Because you lack the risk-associated A allele, your cells maintain typical regulatory control over this pathway [3]. This baseline status is observed across multiple ethnic populations, where the C allele is highly prevalent [4]. While this profile is protective compared to carrying the A allele, maintaining standard clinical screenings and a healthy lifestyle remains important for overall prostate health [2].
Baseline risk of prostate cancer; Typical regulation of the MYC oncogene.
Sample genotype: AA (Homozygous)
Inheriting the A risk allele from both parents is associated with an approximately 1.7-fold increase in the risk of developing prostate cancer compared to the baseline genotype [1]. This variant is located within an intronic region of the CASC8 gene, which serves as a remote enhancer for the MYC oncogene [2]. Having two copies of the risk allele enhances the physical interaction between this regulatory region and the MYC promoter, promoting cell proliferation [3]. This strong genetic association has been replicated in numerous large-scale studies worldwide, highlighting its role in both familial and sporadic cases [4]. Research also suggests that the risk allele is preferentially duplicated within tumor cells, further driving cancer progression [5]. While this genetic marker indicates a higher susceptibility, it is one of many factors, and proactive lifestyle choices and regular clinical check-ups remain key [1].
Significantly elevated risk of prostate cancer; Enhanced activation of the MYC oncogene pathway.
Sample genotype: AC (Heterozygous)
Inheriting one copy of the A risk allele at this locus is linked to a moderately elevated risk of prostate cancer, estimated at approximately 1.4 times the baseline [1]. This genetic variant is located in a critical regulatory region on chromosome 8q24, which functions as a long-range enhancer [2]. The presence of the A allele is thought to alter the physical looping of DNA, leading to increased expression of the MYC proto-oncogene, a powerful driver of cell growth [3]. Multiple international studies have confirmed this association across diverse populations, including men of European, Asian, and African descent [4]. The risk applies across all age groups and is also linked to a slightly higher chance of aggressive tumor characteristics [5]. Understanding this genetic predisposition can help inform personalized discussions with healthcare providers regarding standard prostate health screenings [1].
Moderately elevated risk of prostate cancer; Altered long-range regulation of the MYC oncogene.
Variants with shared genetic architecture
rs10505477 · CASC8 Gene · Chr 8 · Cancer Susceptibility Risk
rs13281615 · CASC8 Gene · Chr 8 · Breast Cancer Risk
rs6983267 · CASC8 Gene · Chr 8 · Cancer Risk
Long-range enhancers on 8q24 regulate c-Myc.
Meta-analysis of association between rs1447295 polymorphism and prostate cancer susceptibility.
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Content updated August 2026.
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