What you carry at this position in your DNA and what research says about it.
Cancer Susceptibility: 10/10 evidence, 33 publications.
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Sample genotype (not yours): G/G
Higher Risk of Several Cancers
Two copies of the G allele are linked to elevated risks for lung, blood, and ovarian cancers. This genotype also correlates with higher red blood cell counts.
What this genotype means: Elevated risk of lung adenocarcinoma; Increased susceptibility to myeloproliferative neoplasms; Higher likelihood of clonal hematopoiesis.
Sample genotype (not yours): A/A
Typical Risk of Cancers
Two copies of the A allele provide a typical baseline risk for lung, blood, and ovarian cancers. This genotype represents the most common genetic profile globally.
What this genotype means: Typical baseline risk for lung and blood cancers; Normal regulation of telomerase expression; Slightly higher baseline lymphocyte counts.
Sample genotype (not yours): G/A
Slightly Higher Risk of Several Cancers
One copy of the G allele is associated with a modest increase in the risk of lung, ovarian, and blood cancers. This genotype represents an intermediate risk profile.
What this genotype means: Modestly elevated risk of lung adenocarcinoma; Slightly increased susceptibility to blood-related disorders; Intermediate telomerase regulation profile.
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 to prevent genomic instability and cellular aging [1]. In most adult somatic cells, telomerase is turned off, leading to progressive telomere shortening over time. However, reactivating telomerase allows cells to achieve replicative immortality, a hallmark of cancer development [1]. Consequently, genetic variations that alter TERT expression or telomerase activity can influence both the risk of developing various cancers and the rate of cellular aging [2].
Variant Impact: The rs2853677 variant is located within an intron of the TERT gene and acts as a regulatory modifier [3]. This genetic change alters a binding site for the Snail1 transcription factor, which normally acts to repress TERT expression [3]. When this repression is disrupted, telomerase activity can be abnormally sustained or elevated, promoting cellular survival and replication [3]. Because of its direct impact on telomere maintenance and cell lifespan, this variant has been widely studied for its role in cancer susceptibility and blood cell production [2].
Key Insight: This variant acts as a molecular volume dial for telomerase, where the minor G allele disrupts a natural genetic brake, leading to higher telomerase expression and increased cancer risk.
Location: TERT. Chromosome 5 · 5p15.33 · 1.3 Mb
Estimated prevalence by population
Global 14.6%; European 17.9%; African 7.5%; East Asian 13.8%; South Asian 30.6%; Americas 11.0%; Ashkenazi 27.2%; Finnish 13.6%; Middle Eastern 33.4%; Amish 18.9%.
Estimated GG genotype frequency.
Global 45.7%; European 48.8%; African 39.8%; East Asian 46.7%; South Asian 49.4%; Americas 44.3%; Ashkenazi 49.9%; Finnish 46.6%; Middle Eastern 48.8%; Amish 49.1%.
Estimated GA genotype frequency.
Global 39.7%; European 33.3%; African 52.7%; East Asian 39.5%; South Asian 20.0%; Americas 44.7%; Ashkenazi 22.9%; Finnish 39.8%; Middle Eastern 17.8%; Amish 32.0%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Lung Cancer
Lung Cancer. Evidence: 10/10. Source: PMID 27393504. Higher Risk.
Blood Cancers
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. Higher Risk.
Clonal Hematopoiesis. Evidence: 9/10. Source: PMID 35835912. Higher Risk.
Gynecological Cancers
Ovarian Cancer. Evidence: 8/10. Source: PMID 38723632. Higher Risk.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Red Blood Cell Count. Evidence: 8/10. Source: PMID 32888494. Higher Count.
Lymphocyte Count. Evidence: 8/10. Source: PMID 39024449. Typical Count.
Showing effects for A/A genotype
Lung Cancer. Evidence: 10/10. Source: PMID 27393504. Typical Risk.
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. Typical Risk.
Clonal Hematopoiesis. Evidence: 9/10. Source: PMID 35835912. Typical Risk.
Ovarian Cancer. Evidence: 8/10. Source: PMID 38723632. Typical Risk.
Red Blood Cell Count. Evidence: 8/10. Source: PMID 32888494. Typical Count.
Lymphocyte Count. Evidence: 8/10. Source: PMID 39024449. Higher Count.
Showing effects for G/A genotype
Lung Cancer. Evidence: 10/10. Source: PMID 27393504. Slightly Higher Risk.
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. Slightly Higher Risk.
Clonal Hematopoiesis. Evidence: 9/10. Source: PMID 35835912. Slightly Higher Risk.
Ovarian Cancer. Evidence: 8/10. Source: PMID 38723632. Slightly Higher Risk.
Red Blood Cell Count. Evidence: 8/10. Source: PMID 32888494. Slightly Higher Count.
Lymphocyte Count. Evidence: 8/10. Source: PMID 39024449. Slightly Higher Count.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the G allele is associated with a significantly higher risk of developing lung cancer, particularly lung adenocarcinoma [1]. This genetic profile is also linked to an increased susceptibility to myeloproliferative neoplasms, which are rare blood cancers characterized by the overproduction of blood cells [2]. Research indicates that this variant elevates the likelihood of clonal hematopoiesis, a state where mutated stem cells dominate blood cell production [3]. Additionally, studies have identified a higher risk of ovarian and renal cell carcinomas in individuals with this genotype [4] [5]. The underlying mechanism involves the disruption of a genetic brake, leading to increased telomerase expression and enhanced cellular survival [6]. While these associations are statistically significant, genetic risk is only one component of overall cancer risk, and lifestyle factors remain highly influential.
Elevated risk of lung adenocarcinoma; Increased susceptibility to myeloproliferative neoplasms; Higher likelihood of clonal hematopoiesis.
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele is associated with a typical, baseline risk for lung cancer and other malignancies [1]. This genotype maintains normal regulation of the TERT gene, allowing the Snail1 protein to properly bind and repress telomerase expression when necessary [2]. Consequently, there is no elevated risk for myeloproliferative neoplasms or clonal hematopoiesis associated with this locus [3] [4]. ClinVar database entries classify the A allele as benign, confirming that it does not contribute to telomere-related diseases like dyskeratosis congenita or idiopathic pulmonary fibrosis. Individuals with this genotype also tend to have typical red blood cell counts and slightly higher baseline lymphocyte counts [5]. Overall, this genetic profile avoids the elevated cancer risks linked to the G allele, representing a favorable baseline for cellular health.
Typical baseline risk for lung and blood cancers; Normal regulation of telomerase expression; Slightly higher baseline lymphocyte counts.
Sample genotype: GA (Heterozygous)
Carrying one copy of the G allele and one copy of the A allele is associated with a moderately elevated risk of lung cancer compared to the typical baseline [1]. This intermediate genetic profile also slightly increases the risk of developing myeloproliferative neoplasms and clonal hematopoiesis [2] [3]. Because telomerase regulation is partially altered by a single G allele, cells may exhibit slightly higher telomerase expression than those with the A/A genotype [4]. This can lead to subtle shifts in blood cell counts, including a minor increase in red blood cells and a slight decrease in lymphocytes [5]. While the risk is elevated compared to non-carriers, it is lower than that of individuals with two copies of the G allele. Regular health maintenance and avoiding environmental risk factors like smoking are particularly beneficial for managing overall risk.
Modestly elevated risk of lung adenocarcinoma; Slightly increased susceptibility to blood-related disorders; Intermediate telomerase regulation profile.
Variants with shared genetic architecture
rs2242652 · TERT Gene · Chr 5 · Cancer Risk Trade-offs
rs2735940 · TERT Gene · Chr 5 · Colorectal Cancer Risk
rs7705526 · TERT Gene · Chr 5 · Lung Cancer Risk
hTERT cancer risk genotypes are associated with telomere length.
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.
Content updated August 2026.
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