What you carry at this position in your DNA and what research says about it.
Colorectal Cancer Risk: 8/10 evidence, 26 publications.
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Sample genotype (not yours): C/C
Typical Colorectal Cancer Risk
The common C/C profile is associated with typical baseline risk for colorectal cancer. It represents the most frequent genetic pattern globally and does not carry the risk-elevating variant.
What this genotype means: Typical baseline risk of colorectal cancer; Standard likelihood of developing colon polyps; Normal cardiac conduction times.
Sample genotype (not yours): A/A
Increased Colorectal Cancer Risk
Two copies of the A allele are associated with an increased risk of colorectal cancer and a higher likelihood of developing colon polyps.
What this genotype means: Elevated risk of colorectal cancer; Higher cumulative count of precancerous colon polyps; Slightly longer QRS interval duration.
Sample genotype (not yours): C/A
Slightly Increased Colorectal Cancer Risk
One copy of the A allele is associated with a slightly higher risk of developing colorectal cancer and precancerous polyps. This genetic profile is found in about one-third of the global population.
What this genotype means: Slightly elevated risk of colorectal cancer; Increased likelihood of developing precancerous colon polyps; Very minor increase in QRS interval duration.
Gene function and biological role
Gene Function: The BMP2 gene encodes bone morphogenetic protein 2, which belongs to a family of signaling proteins involved in tissue growth and development. In the gastrointestinal tract, this protein acts as a tumor suppressor by regulating cell division and promoting programmed cell death [1]. When BMP2 signaling is altered, cells in the colon lining can proliferate unchecked, increasing the likelihood of tissue overgrowth [2]. This pathway is crucial for preventing the initial stages of tumor development in the colon and rectum [3]. Genetic variations near this gene can influence its expression, thereby affecting an individual's susceptibility to colorectal growths [1].
Variant Impact: Located on chromosome 20 near the BMP2 gene, rs961253 is an intergenic single nucleotide polymorphism. This genetic marker is situated in a regulatory region that is thought to influence how the nearby BMP2 gene is expressed [4]. Specifically, the risk-associated A allele is linked to altered regulation of BMP2, which can weaken the body's natural defenses against abnormal cell growth in the colon [1]. Over time, this reduced tumor-suppressive signaling can lead to a higher accumulation of precancerous polyps, also known as adenomas [5]. Researchers have widely replicated this association across diverse populations, making it a well-established marker for colorectal susceptibility [6].
Key Insight: This variant does not change the structure of the BMP2 protein itself, but instead alters a regulatory region that controls how much of the protein is produced in the colon lining.
Location: BMP2. Chromosome 20 · 20p12.3 · 6.4 Mb
Estimated prevalence by population
Global 44.8%; European 41.9%; African 42.3%; East Asian 82.0%; South Asian 47.8%; Americas 48.2%; Ashkenazi 45.4%; Finnish 50.4%; Middle Eastern 43.2%; Amish 31.4%.
Estimated CC genotype frequency.
Global 43.9%; European 45.7%; African 45.5%; East Asian 17.1%; South Asian 42.7%; Americas 42.5%; Ashkenazi 44.0%; Finnish 41.2%; Middle Eastern 45.0%; Amish 49.3%.
Estimated CA genotype frequency.
Global 11.3%; European 12.5%; African 12.2%; East Asian 0.9%; South Asian 9.5%; Americas 9.4%; Ashkenazi 10.7%; Finnish 8.4%; Middle Eastern 11.7%; Amish 19.3%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. Typical Risk.
Colon Polyps. Evidence: 8/10. Source: PMID 32928932. Typical Risk.
Early-Onset Colorectal Cancer. Evidence: 3/10. Source: PMID 22235025. Typical Risk.
Familial Colorectal Cancer. Evidence: 3/10. Source: PMID 20501757. Typical Risk.
Cardiovascular & Metabolic
Heart Rhythm & Conduction
Cardiac Conduction. Evidence: 6/10. Source: PMID 30012220. Typical Speed.
Showing effects for A/A genotype
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. ~1.2x Risk.
Colon Polyps. Evidence: 8/10. Source: PMID 32928932. Increased Risk.
Early-Onset Colorectal Cancer. Evidence: 3/10. Source: PMID 22235025. Increased Risk.
Familial Colorectal Cancer. Evidence: 3/10. Source: PMID 20501757. Increased Risk.
Cardiac Conduction. Evidence: 6/10. Source: PMID 30012220. Slower Speed.
Showing effects for C/A genotype
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. ~1.1x Risk.
Colon Polyps. Evidence: 8/10. Source: PMID 32928932. Slightly Increased.
Early-Onset Colorectal Cancer. Evidence: 3/10. Source: PMID 22235025. Slightly Increased.
Familial Colorectal Cancer. Evidence: 3/10. Source: PMID 20501757. Slightly Increased.
Cardiac Conduction. Evidence: 6/10. Source: PMID 30012220. Slightly Slower.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
The C/C genotype represents the baseline genetic profile at this locus, which is associated with a typical risk of developing colorectal cancer [1]. Multiple large-scale genetic studies have demonstrated that individuals with this genotype do not experience the elevated risk of colon polyps associated with the A allele [2]. The C allele is associated with normal regulatory control of the nearby BMP2 gene, allowing the body to maintain standard tumor-suppressive signaling in the intestinal lining [3]. Because of this stable signaling, the formation of precancerous adenomas is not genetically accelerated at this specific locus [4]. Additionally, this genotype is associated with typical cardiac conduction times, specifically a standard QRS duration on an electrocardiogram [5].
Typical baseline risk of colorectal cancer; Standard likelihood of developing colon polyps; Normal cardiac conduction times.
Sample genotype: AA (Homozygous)
Two copies of the risk-associated A allele are linked to the highest susceptibility to colorectal cancer at this locus [1]. This double-copy profile is associated with altered regulatory control of the BMP2 gene, which can compromise the natural tumor-suppressive mechanisms in the colon lining [2]. Consequently, studies have shown a stronger association with the development and accumulation of precancerous colon polyps, or adenomas [3]. This genetic link has been confirmed in numerous independent clinical cohorts worldwide, emphasizing its role in early-stage tumor susceptibility [4]. Additionally, this genotype is associated with a slightly longer QRS duration on an electrocardiogram, indicating a minor influence on cardiac conduction pathways [5].
Elevated risk of colorectal cancer; Higher cumulative count of precancerous colon polyps; Slightly longer QRS interval duration.
Sample genotype: CA (Heterozygous)
A single copy of the risk-associated A allele in the C/A genotype slightly increases susceptibility to colorectal cancer [1]. This genetic variation is thought to alter the expression of the nearby BMP2 gene, mildly reducing its ability to suppress abnormal cell division in the colon [2]. As a result, individuals with this genotype may have a slightly higher tendency to develop precancerous colon polyps, also known as adenomas, over their lifetime [3]. Large-scale genome-wide association studies have consistently replicated this modest increase in risk across multiple ethnic groups [4]. On an electrocardiogram, this genotype is also associated with a very minor, fraction-of-a-millisecond increase in the QRS duration, which reflects cardiac conduction speed [5].
Slightly elevated risk of colorectal cancer; Increased likelihood of developing precancerous colon polyps; Very minor increase in QRS interval duration.
Variants with shared genetic architecture
rs4813802 · BMP2 Gene · Chr 20 · Colorectal Cancer Risk
rs979012 · BMP2 Gene · Chr 20 · Body Fat Distribution
rs235768 · BMP2 Gene · Chr 20 · Dental and Eye Health
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
Content updated August 2026.
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