What you carry at this position in your DNA and what research says about it.
Colorectal Cancer Risk: 7/10 evidence, 17 publications.
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Sample genotype (not yours): A/A
Increased Risk of Colorectal Cancer
Carrying two copies of the A allele is associated with an increased risk of developing colorectal and prostate cancers. This genetic profile carries the highest risk elevation at this specific locus.
What this genotype means: Elevated risk of colorectal cancer; Increased susceptibility to prostate cancer.
Sample genotype (not yours): A/G
Slightly Increased Risk of Colorectal Cancer
Carrying one copy of the A allele is associated with a slightly elevated risk of developing colorectal and prostate cancers. This risk is modestly higher than the baseline population average.
What this genotype means: Modestly elevated risk of colorectal cancer; Slightly increased susceptibility to prostate cancer.
Sample genotype (not yours): G/G
Typical Risk of Colorectal Cancer
Carrying two copies of the protective G allele is associated with a typical baseline risk of developing colorectal and prostate cancers. This is the most common genetic profile globally.
What this genotype means: Typical baseline risk of colorectal cancer; Typical baseline risk of prostate cancer.
Gene function and biological role
Gene Function: The POU5F1B gene, located in the well-known 8q24 cancer susceptibility region, is a non-coding pseudogene that is highly homologous to the pluripotency transcription factor OCT4 [1]. Although once considered non-functional, research indicates it is actively transcribed in various cancer tissues and may play a role in promoting tumor growth [1]. The surrounding genomic region acts as a powerful regulatory hub, containing enhancers that modulate the expression of neighboring oncogenes like MYC [1]. Variations in and around this gene have been consistently linked to altered susceptibility to several types of epithelial cancers, particularly colorectal and prostate malignancies [2].
Variant Impact: The rs7014346 variant is an intronic single nucleotide polymorphism located within the POU5F1B gene on chromosome 8. This genetic change is situated in the 8q24.21 region, a major susceptibility locus for multiple human cancers [3]. The variant is thought to alter local chromatin structure or disrupt enhancer-promoter interactions, thereby influencing the expression of nearby target genes involved in cell proliferation [3]. Extensive genome-wide association studies have identified this specific variant as a key marker for altered risk of colorectal and prostate cancers [4].
Key Insight: This variant lies in a regulatory region on chromosome 8 that acts as a genetic switchboard, controlling the activity of cancer-related genes further down the DNA strand.
Location: POU5F1B. Chromosome 8 · 8q24.21 · 127.4 Mb
Estimated prevalence by population
Global 13.2%; European 13.2%; African 15.8%; East Asian 8.3%; South Asian 11.4%; Americas 9.6%; Ashkenazi 13.2%; Finnish 11.3%; Middle Eastern 10.2%; Amish 21.3%.
Estimated AA genotype frequency.
Global 46.0%; European 46.3%; African 47.9%; East Asian 41.0%; South Asian 44.7%; Americas 42.8%; Ashkenazi 46.2%; Finnish 44.6%; Middle Eastern 43.5%; Amish 49.7%.
Estimated AG genotype frequency.
Global 40.7%; European 40.5%; African 36.2%; East Asian 50.7%; South Asian 43.9%; Americas 47.6%; Ashkenazi 40.6%; Finnish 44.1%; Middle Eastern 46.3%; Amish 29.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 7/10. Source: PMID 18372901. Increased Risk.
Colorectal Cancer. Evidence: 6/10. Source: PMID 32887889. Increased Risk.
Prostate Cancer
Prostate Cancer. Evidence: 6/10. Source: PMID 38632662. Increased Risk.
Showing effects for A/G genotype
Colorectal Cancer. Evidence: 7/10. Source: PMID 18372901. Slightly Increased.
Colorectal Cancer. Evidence: 6/10. Source: PMID 32887889. Slightly Increased.
Prostate Cancer. Evidence: 6/10. Source: PMID 38632662. Slightly Increased.
Showing effects for G/G genotype
Colorectal Cancer. Evidence: 7/10. Source: PMID 18372901. Typical Risk.
Colorectal Cancer. Evidence: 6/10. Source: PMID 32887889. Typical Risk.
Prostate Cancer. Evidence: 6/10. Source: PMID 38632662. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
A homozygous profile with two risk-associated A alleles is consistently linked to the highest relative risk of colorectal cancer compared to other genotypes at this position [1]. Large-scale genomic studies have replicated this association across multiple ethnic cohorts, confirming its role as a low-penetrance risk factor [2]. Additionally, this genotype is associated with an increased susceptibility to prostate cancer [3]. The genetic variation is located in a regulatory region that can influence the behavior of oncogenes, potentially affecting cell proliferation. This genetic profile is less common globally but represents an important factor in personalized wellness planning.
Elevated risk of colorectal cancer; Increased susceptibility to prostate cancer.
Sample genotype: AG (Heterozygous)
A heterozygous profile consisting of one risk-associated A allele and one protective G allele is linked to a modest, intermediate increase in the lifetime risk of colorectal cancer compared to the G/G baseline [1]. Meta-analyses of diverse populations show that this genetic variation on chromosome 8q24 also slightly influences susceptibility to prostate cancer [2]. The biological mechanism is thought to involve altered regulation of nearby genes that control cell growth and division. While this genetic marker indicates a slight elevation in risk, it is only one of many factors, and lifestyle choices such as diet and exercise play a major role in overall risk. Many people with this genotype never develop cancer, as genetic risk is only one piece of the puzzle.
Modestly elevated risk of colorectal cancer; Slightly increased susceptibility to prostate cancer.
Sample genotype: GG (Homozygous)
A homozygous profile with two protective G alleles represents the typical baseline genetic profile [1]. Multiple large-scale genome-wide association studies have demonstrated that this genotype does not carry the elevated risk of colorectal cancer associated with the alternative A allele [2]. This baseline risk profile also extends to other malignancies linked to the 8q24 region, such as prostate cancer [3]. This genotype is highly common across most global populations, representing the standard baseline for risk comparison. Most individuals with this genetic makeup experience standard lifetime cancer risks. It is important to remember that a typical genetic risk does not guarantee immunity from disease.
Typical baseline risk of colorectal cancer; Typical baseline risk of prostate cancer.
Variants with shared genetic architecture
rs10090154 · CASC8 Gene · Chr 8 · Prostate Cancer Risk
rs6983561 · Chr 8 · Prostate Cancer Risk
rs7000448 · CASC8 Gene · Chr 8 · Prostate Cancer Risk
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.
Content updated August 2026.
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