What you carry at this position in your DNA and what research says about it.
DNA Repair and Cancer Risk: 6/10 evidence, 41 publications.
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Sample genotype (not yours): C/C
Typical DNA Repair and Standard Cancer Risk
Standard DNA repair capacity helps protect cells from environmental toxins and carcinogens. This genotype is associated with typical baseline risks for lung cancer and glioma.
What this genotype means: Standard DNA repair efficiency; Typical baseline risk of lung cancer and glioma; Better response to platinum-based chemotherapies.
Sample genotype (not yours): A/A
Reduced DNA Repair Capacity and Higher Cancer Risk
Diminished DNA repair efficiency is characteristic of carrying two copies of the minor A allele. This reduction in cellular repair capacity is linked to an increased susceptibility to lung cancer and glioma.
What this genotype means: Reduced DNA repair efficiency; Elevated risk of lung cancer and glioma; Poorer response to platinum-based chemotherapy.
Sample genotype (not yours): C/A
Slightly Reduced DNA Repair and Altered Drug Response
Slightly reduced DNA repair capacity may occur due to the presence of one copy of the A allele. This minor reduction is associated with a slightly elevated risk of lung cancer, particularly among smokers.
What this genotype means: Slightly reduced DNA repair efficiency; Slightly increased lung cancer risk in smokers; Lower risk of high LDL cholesterol.
Gene function and biological role
Gene Function: ERCC1 encodes a crucial component of the nucleotide excision repair pathway, which is responsible for repairing DNA damage caused by environmental factors like UV radiation and chemical carcinogens. This protein forms a complex with XPF to cut damaged DNA strands, allowing the cell to replace the damaged section with healthy DNA. Proper functioning of ERCC1 is essential for maintaining genomic stability and preventing mutations that can lead to cancer. Variations in this gene can alter DNA repair efficiency, affecting both cancer susceptibility and how tumor cells respond to DNA-damaging chemotherapy drugs.
Variant Impact: The rs3212986 variant, also known as C8092A, is located in the 3 prime untranslated region of the ERCC1 gene. This genetic change is thought to influence the stability and translation of ERCC1 mRNA, thereby affecting the levels of the functional DNA repair protein produced by the cell. Carrying the minor A allele is associated with a diminished capacity to repair specific types of DNA damage, such as those induced by tobacco smoke and other environmental toxins. Consequently, this variant has been widely studied for its impact on cancer susceptibility and the effectiveness of platinum-based chemotherapies.
Key Insight: The same genetic variant that reduces the body's ability to repair DNA damage from cigarette smoke also makes tumor cells more vulnerable to certain chemotherapy drugs, representing a classic genetic trade-off.
Location: ERCC1. Chromosome 19 · 19q13.32 · 45.4 Mb
Estimated prevalence by population
Global 53.1%; European 57.2%; African 49.9%; East Asian 47.6%; South Asian 48.6%; Americas 42.1%; Ashkenazi 57.0%; Finnish 60.1%; Middle Eastern 61.5%; Amish 41.8%.
Estimated CC genotype frequency.
Global 39.3%; European 36.9%; African 41.5%; East Asian 42.8%; South Asian 42.2%; Americas 45.6%; Ashkenazi 37.0%; Finnish 34.8%; Middle Eastern 33.8%; Amish 45.7%.
Estimated CA genotype frequency.
Global 7.5%; European 6.0%; African 8.6%; East Asian 9.6%; South Asian 9.2%; Americas 12.4%; Ashkenazi 6.0%; Finnish 5.0%; Middle Eastern 4.7%; Amish 12.5%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
General Cancer Risk
DNA Repair Capacity. Evidence: 3/10. Source: PMID 23203453. Typical.
Lung Cancer
Lung Cancer. Evidence: 4/10. Source: PMID 15734977. Typical Risk.
Brain & Nervous System Cancers
Glioma. Evidence: 4/10. Source: PMID 22201261. Typical Risk.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Response. Evidence: 6/10. Source: PMID 19203783. Stronger Response.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 3/10. Source: PMID 32727492. Typical Risk.
Showing effects for A/A genotype
DNA Repair Capacity. Evidence: 3/10. Source: PMID 23203453. Reduced.
Lung Cancer. Evidence: 4/10. Source: PMID 15734977. Increased Risk.
Glioma. Evidence: 4/10. Source: PMID 22201261. Increased Risk.
Chemotherapy Response. Evidence: 6/10. Source: PMID 19203783. Poorer Response.
LDL Cholesterol. Evidence: 3/10. Source: PMID 32727492. Lower Risk.
Showing effects for C/A genotype
DNA Repair Capacity. Evidence: 3/10. Source: PMID 23203453. Slightly Reduced.
Lung Cancer. Evidence: 4/10. Source: PMID 15734977. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Standard DNA repair capacity helps protect cells from environmental toxins and carcinogens. Research indicates that having two copies of the common C allele is associated with typical baseline risks for lung cancer and glioma. In the context of cancer treatment, this genotype is linked to a better therapeutic response to platinum-based chemotherapy drugs like cisplatin. However, it may also correlate with a typical risk of developing hyper-LDL-cholesterolemia. Maintaining a healthy lifestyle and avoiding smoking remain key strategies for overall cellular health.
Standard DNA repair efficiency; Typical baseline risk of lung cancer and glioma; Better response to platinum-based chemotherapies.
Sample genotype: AA (Homozygous)
Diminished DNA repair efficiency is characteristic of carrying two copies of the minor A allele. This reduction in cellular repair capacity is linked to an increased susceptibility to lung cancer and glioma. In clinical settings, this genotype is associated with a poorer response to platinum-based chemotherapies such as cisplatin. However, it also correlates with a reduced risk of cisplatin-induced kidney damage and a lower risk of high LDL cholesterol. These findings emphasize the importance of minimizing exposure to environmental carcinogens like tobacco smoke.
Reduced DNA repair efficiency; Elevated risk of lung cancer and glioma; Poorer response to platinum-based chemotherapy.
Sample genotype: CA (Heterozygous)
Slightly reduced DNA repair capacity may occur due to the presence of one copy of the A allele. This minor reduction in repair efficiency is associated with a slightly elevated risk of lung cancer, particularly among individuals who smoke. When undergoing certain chemotherapy regimens, this genotype has been linked to a poorer response to cisplatin but also a lower risk of certain side effects like severe vomiting. On the other hand, carrying this allele is associated with a decreased risk of high LDL cholesterol. These mixed effects highlight the complex role of DNA repair variants across different body systems.
Slightly reduced DNA repair efficiency; Slightly increased lung cancer risk in smokers; Lower risk of high LDL cholesterol.
Variants with shared genetic architecture
rs11615 · ERCC1 Gene · Chr 19 · DNA Repair and Cancer Risk
rs2298881 · ERCC1 Gene · Chr 19 · DNA Repair and Cancer Risk
rs1799782 · XRCC1 Gene · Chr 19 · Cancer Risk
Content updated August 2026.
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