What you carry at this position in your DNA and what research says about it.
Cancer Risk: 8/10 evidence, 48 publications.
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Sample genotype (not yours): C/C
Higher Breast and Pancreatic Cancer Risk
A higher susceptibility to breast and pancreatic cancers is associated with this profile. At the same time, it offers relative protection against lung and prostate cancers.
What this genotype means: Increased risk of breast cancer; Increased risk of pancreatic cancer; Lower risk of prostate cancer.
Sample genotype (not yours): C/T
Slightly Increased Risk for Multiple Cancers
Carrying one copy of each allele is linked to a slightly increased risk across several cancer types. This includes a modest elevation in susceptibility to breast, pancreatic, lung, and prostate cancers.
What this genotype means: Slightly increased risk of breast and pancreatic cancers; Slightly increased risk of lung and prostate cancers.
Sample genotype (not yours): T/T
Higher Prostate and Lung Cancer Risk
An increased susceptibility to prostate and lung cancers is associated with this profile. Conversely, it is linked to a lower risk of breast and pancreatic cancers.
What this genotype means: Increased risk of prostate cancer; Increased risk of lung cancer; Lower risk of breast cancer.
Gene function and biological role
Gene Function: The TERT gene encodes telomerase reverse transcriptase, the catalytic subunit of the telomerase enzyme. Telomerase maintains the protective caps, known as telomeres, at the ends of chromosomes. In most adult cells, telomerase is turned off, leading to gradual telomere shortening and eventual cell aging. However, cancer cells frequently reactivate telomerase to achieve uncontrolled, infinite division. Variations in this gene can influence telomerase activity, altering the delicate balance between cellular aging and cancer susceptibility.
Variant Impact: The rs2736098 variant is a synonymous genetic change located in the second exon of the TERT gene. Although it does not alter the amino acid sequence of the telomerase protein, it acts as a key regulatory marker. Studies suggest this variant lies within an active enhancer region, directly influencing TERT gene expression levels. Different alleles at this position alter susceptibility to various cancers in a tissue-specific manner. This creates a genetic trade-off where one allele increases the risk of certain cancers while lowering the risk of others.
Key Insight: This variant represents a genetic trade-off where the same allele that increases the risk of breast and pancreatic cancers actually lowers the risk of prostate and lung cancers.
Location: TERT. Chromosome 5 · 5p15.33 · 1.3 Mb
Estimated prevalence by population
Global 61.2%; European 53.5%; African 79.5%; East Asian 41.1%; South Asian 29.4%; Americas 64.2%; Ashkenazi 51.8%; Finnish 62.8%; Middle Eastern 53.0%; Amish 53.5%.
Estimated CC genotype frequency.
Global 33.2%; European 39.3%; African 19.3%; East Asian 46.0%; South Asian 49.6%; Americas 31.8%; Ashkenazi 40.4%; Finnish 32.9%; Middle Eastern 39.6%; Amish 39.3%.
Estimated CT genotype frequency.
Global 5.7%; European 7.2%; African 1.2%; East Asian 12.9%; South Asian 20.9%; Americas 3.9%; Ashkenazi 7.9%; Finnish 4.3%; Middle Eastern 7.4%; Amish 7.2%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 8/10. Source: PMID 33398198. Typical Risk.
Breast Cancer
Breast Cancer. Evidence: 7/10. Source: PMID 34594039. ~1.15x Risk.
Gastrointestinal Cancers
Pancreatic Cancer. Evidence: 6/10. Source: PMID 25086665. ~1.22x Risk.
Lung Cancer
Lung Cancer. Evidence: 6/10. Source: PMID 37167549. Typical Risk.
Showing effects for C/T genotype
Prostate Cancer. Evidence: 8/10. Source: PMID 33398198. Slightly Increased.
Lung Cancer. Evidence: 6/10. Source: PMID 37167549. Slightly Increased.
Showing effects for T/T genotype
Breast Cancer. Evidence: 7/10. Source: PMID 34594039. Typical Risk.
Pancreatic Cancer. Evidence: 6/10. Source: PMID 25086665. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele is linked to an elevated risk of breast and pancreatic cancers [1] [2]. Large-scale genetic studies show a modest increase in odds for these specific malignancies [1] [2]. However, the same genetic pattern is associated with a lower likelihood of developing prostate and lung cancers [3]. This dual effect highlights the complex, tissue-specific role of telomerase regulation in different organs [1]. Maintaining a healthy lifestyle and staying up to date with standard age-appropriate cancer screenings remains the most effective approach [1].
Increased risk of breast cancer; Increased risk of pancreatic cancer; Lower risk of prostate cancer.
Sample genotype: CT (Heterozygous)
Inheriting one C allele and one T allele results in a mixed risk profile across different cancer types [1] [2]. This heterozygous state is associated with a slight increase in susceptibility to both C-allele-linked cancers, like breast and pancreatic, and T-allele-linked cancers, like lung and prostate [3] [4]. Because both risk alleles are present, the protective benefits seen in the homozygotes are largely minimized [1]. The overall impact on absolute risk is modest, meaning environmental factors play a dominant role [2]. Standard health maintenance and routine clinical screenings are key to managing overall wellness [1].
Slightly increased risk of breast and pancreatic cancers; Slightly increased risk of lung and prostate cancers.
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele is associated with a higher risk of prostate and lung cancers [1] [2]. Research indicates that the T allele acts as a risk factor for these specific malignancies, particularly in certain populations [1] [2]. On the other hand, this profile is linked to a reduced risk of breast and pancreatic cancers [3] [4]. This pattern demonstrates how a single genetic variation can have opposing effects depending on the tissue type [3].
Increased risk of prostate cancer; Increased risk of lung cancer; Lower risk of breast cancer.
Variants with shared genetic architecture
rs2242652 · TERT Gene · Chr 5 · Cancer Risk Trade-offs
rs2735940 · TERT Gene · Chr 5 · Colorectal Cancer Risk
rs2853677 · TERT Gene · Chr 5 · Cancer Susceptibility
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer.
Content updated August 2026.
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