rs2981582

A SNP in the FGFR2 gene on chromosome 10. Its most notable genotype is A;A: 1.7x higher risk of ER+ breast cancer

Gene
FGFR2
Location
Chr 10121,592,803 (GRCh38)
Highest magnitude
3.2Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
41%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodnormalTypical · 0.034% of people
  2. A;GBad1.3x higher risk of ER+ breast cancerImportant · 3.048% of people
  3. A;AMost notableBad1.7x higher risk of ER+ breast cancerImportant · 3.217% of people

SNPedia records rs2981582 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 34% A;G 48% A;A 17%
  • European ancestry (Utah)G;G 34% A;G 42% A;A 25%
  • Han Chinese (Beijing)G;G 46% A;G 41% A;A 13%
  • Japanese (Tokyo)G;G 55% A;G 38% A;A 7%
  • Yoruba (Nigeria)G;G 25% A;G 51% A;A 24%
  • African ancestry (Southwest US)G;G 21% A;G 63% A;A 16%
  • Chinese (Denver)G;G 49% A;G 44% A;A 7%
  • Gujarati IndianG;G 36% A;G 51% A;A 14%
  • Luhya (Kenya)G;G 25% A;G 58% A;A 17%
  • Mexican ancestry (Los Angeles)G;G 31% A;G 47% A;A 22%
  • Maasai (Kenya)G;G 22% A;G 52% A;A 26%
  • TuscanG;G 36% A;G 43% A;A 21%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 810 words

rs2981582 in the FGFR2 gene was one of the four strongest associations found in a genome-wide association study (GWAS) of over 4,000 breast cancer samples. The T allele was more strongly related to ER-positive (per-allele odds ratio 1.31 (CI: 1.27-1.36)) than ER-negative (odds ratio 1.08 (CI:1.03-1.14)) disease (p for heterogeneity = 10(-13)). While on its own still of fairly small effect, this was the most significant of 7 SNPs to help estimate risk of breast cancer. Family history and/or BRCA1 or BRCA2 testing status are more significant factors, which were not part of this panel. Based on a study of 1,049 Chinese breast cancer patients, carriers of risk alleles at three SNPs (rs2981582, rs1219648 and rs2420946) were at 1.36x increased risk for breast cancer (CI: 1.13-1.62, p = 0.001). A study of 1,173 Caucasian ovarian cancer patients did not find strong support for an association. Confirmed in 988 sporadic breast cancer cases and 1,016 controls from the West of Ireland to be associated with increased risk (odds ratio 1.22, p(allelic) = 2.2 x 10e-3) A study of 1,225 Caucasian breast cancer patients found a significant association with rs2981582 but only in women with estrogen receptor positive (ER+), progesterone receptor positive (PR+) and HER2/Neu negative (HER2-) tumors. Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases. Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies. The search for genes contributing to endometriosis risk. Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. Breast cancer susceptibility loci and mammographic density. Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists. Can genes for mammographic density inform cancer aetiology? Novel breast cancer risk alleles and endometrial cancer risk. Genetic susceptibility loci for breast cancer by estrogen receptor status. The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. Genetic variation in the chromosome 17q23 amplicon and breast cancer risk. Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases. A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Leveraging genetic variability across populations for the identification of causal variants. Rare variants create synthetic genome-wide associations. Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. rs2981582 is associated with FGFR2 expression in normal breast. Performance of common genetic variants in breast-cancer risk models. Evaluating cancer epidemiologic risk factors using multiple primary malignancies. Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis. Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. [Association of FGFR2 gene polymorphism with estrogen receptor positive breast cancer detected by fluorescent quantitative PCR]. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Combined effect of low-penetrant SNPs on breast cancer risk. The role of genetic breast cancer susceptibility variants as prognostic factors.

Source and license

Adapted from rs2981582 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.