TP53 · rs78378222
Where this position leads
Conditions: Basal Cell Carcinoma, Ovarian Cancer
What the study found
Who was studied 4,572 European ancestry cases, 266,358 European ancestry controls; replicated in up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls.
The effect Each copy of the G allele carried 2.07 times the odds of Basal cell carcinoma; p = 1 × 10−20.
How common The G allele had a frequency of about 2% in the people studied.
Where it sits Chromosome 17, band 17p13.1 — in the 3′ untranslated region of TP53.
What ClinVar records
Classification
Benign for Basal cell carcinoma, susceptibility to, 7, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, TP53-related disorder, Li-Fraumeni syndrome; reviewed by expert panel (3 of 4 stars, 8 submitters), last evaluated 2025-12-05.
ClinVar record 35555 NM_000546.6(TP53):c.*1175A>C
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
2025-11-20 · Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer. NPJ Genomic Medicine. 2025. DOI:10.1038/s41525-025-00529-w
This is the largest genome-wide association study of high-grade serous ovarian cancer (HGSOC) to date, meta-analyzing over 22 million variants across 398,238 women from three major consortia (OCAC, UK Biobank, CIMBA). It found 8 novel risk variants across 7 loci, adding to 19 previously known regions. The most interesting single finding, biologically, is rs78378222-T, a variant in the 3' untranslated region (UTR) of TP53 -- the most famous tumor suppressor gene in cancer biology -- associated with HGSOC risk (relative risk 1.44, P=1.76x10^-9). This exact variant is already on this site, linked to its basal cell carcinoma page under a different trait context; it is now also linked to this site's ovarian cancer page, a genuine case of the same regulatory variant contributing to risk in two very different cancers through TP53's broad tumor-suppressor role. The study also built a polygenic score from 64,518 variants (trained on FinnGen data, validated in UK Biobank) achieving an odds ratio of 1.46 per standard deviation -- a meaningful improvement in HGSOC risk prediction credited specifically to larger sample size and better genetic imputation, illustrating how methodological progress alone can surface real associations earlier studies missed. This site's ovarian cancer page carried 9 variants before this addition.
rs78378222 is a single position in the genome, in or near the TP53 gene. Published research associates it with basal cell carcinoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Basal Cell Carcinoma, Ovarian Cancer. The research behind each link, and its sources, are set out on that condition page.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
GWAS Catalog, Nat Commun 2015, PMID:25855136. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Basal cell carcinoma (rs78378222). MyGeneLog™. https://www.mygenelog.com/variants/rs78378222