Almost always caused by persistent infection with high-risk HPV, which vaccination and screening already address directly. A study of Han Chinese women found a new susceptibility locus at 4q12 — this page's one variant, in the gene EXOC1 — alongside a known immune-gene association.
Cervical cancer is unusual among cancers in having a known, dominant cause: persistent infection with high-risk strains of human papillomavirus (HPV). HPV vaccination prevents most of the infections that lead to it, and cervical screening — the Pap smear and HPV testing — catches precancerous changes long before they become cancer. Those two interventions already do most of the prevention work that exists for this disease.
Genetics enters at a narrower question: among people exposed to high-risk HPV, who is more likely to go on to develop cancer, rather than clear the infection or develop changes that regress on their own.
Shi et al. 2013 ran a three-stage genome-wide association study in Han Chinese women: a discovery set of 1,364 cases and 3,028 controls, followed by two further stages adding more than 4,000 additional cases. The paper reported two new susceptibility loci, at 4q12 and 17q12, and separately replicated a known association with the immune genes HLA-DPB1/DPB2.
The variant on this page, rs13117307, sits in EXOC1, a gene located at 4q12 — one of the paper's two new findings.
EXOC1 is part of the exocyst complex, a cellular machine involved in directing proteins to the right place inside a cell. It is not an obvious cancer gene the way a DNA-repair gene is, and the paper's contribution was finding the statistical association rather than fully explaining the mechanism — which is stated plainly rather than dressed up as more settled than it is.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 4 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Koel M et al. 2023, Human molecular genetics rs27069 (near CLPTM1L), rs12603332 (ORMDL3), rs35508382 (near HLA-DQA1) — PMID:36929174
Rashkin SR et al. 2020, Nature communications rs2856437 (PBX2) — PMID:32887889
HPV vaccination and cervical screening are the interventions with proven, large effects. A single variant found in one population, shifting risk slightly, is not a reason to change either — it says nothing about whether vaccination or screening is worthwhile for any individual, and both are worthwhile regardless of genotype.
Screening guidelines are set by clinical bodies based on age and prior results, not genotype. Nothing on this page changes when someone should be screened or how often.
This finding comes from Han Chinese women specifically. Genetic associations found in one population do not always carry the same effect size — or replicate at all — in others, and this page does not claim otherwise. It reports what the study found, in the population it studied.
HPV vaccine response and other infection-related variants are catalogued separately, where the evidence supports them. This page is specifically about cancer susceptibility after HPV exposure, not about the infection itself.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Cervical Cancer comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 3 of 7 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Cervical Cancer. MyGeneLog™. https://www.mygenelog.com/conditions/cervical-cancer
No. This is one variant, found in one population, shifting risk slightly. HPV vaccination and cervical screening are the interventions with large, proven effects, and neither depends on genotype.
Persistent infection with high-risk strains of human papillomavirus (HPV) is the dominant cause. This page is about a genetic factor that may shift risk among people exposed to the virus, not about an alternative cause.
No — Han Chinese women specifically, across three stages totalling more than 5,000 cases. Genetic associations found in one population do not always carry the same effect in others, and this has not been established either way here.
It is part of the exocyst complex, a cellular machine that helps direct proteins to the right location inside a cell. The study found a statistical association with cervical cancer risk at this location; it did not establish the mechanism.
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