What you carry at this position in your DNA and what research says about it.
Breast Cancer Risk: 10/10 evidence, 23 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): A/A
Typical Breast Cancer Risk
Presence of the common A allele is associated with a baseline risk of developing breast cancer. This genetic profile does not carry the elevated risk factor associated with the G variant.
What this genotype means: Typical baseline risk of breast cancer; Typical expression of FGF10 and MRPS30 genes.
Sample genotype (not yours): A/G
Slightly Increased Breast Cancer Risk
A slightly higher risk of developing breast cancer, particularly estrogen receptor-positive tumors, is associated with the G allele. This genetic variant acts as an enhancer that increases the expression of specific genes in breast tissue.
What this genotype means: Slightly increased risk of breast cancer; Modestly increased expression of FGF10 and MRPS30.
Sample genotype (not yours): G/G
Increased Breast Cancer Risk
An increased risk of developing breast cancer, especially estrogen receptor-positive tumors, is associated with the G/G genotype. This genetic profile leads to higher expression of genes involved in cell growth and survival in breast tissue.
What this genotype means: Increased risk of breast cancer; Elevated expression of FGF10 and MRPS30 in breast tissue.
Gene function and biological role
Gene Function: The 5p12 genomic region contains critical regulatory elements that control the expression of nearby target genes, most notably FGF10 and MRPS30 [1]. FGF10 encodes fibroblast growth factor 10, a signaling protein that plays a vital role in cell growth, tissue repair, and embryonic development [1]. MRPS30 encodes a mitochondrial ribosomal protein that is essential for mitochondrial protein synthesis and has been implicated in regulating cell death pathways [1]. Together, these genes act as key players in cell proliferation and survival in breast tissue [1]. Variations in this regulatory region can alter the binding of transcription factors, thereby modifying the risk of developing hormone receptor-positive breast cancers [2].
Variant Impact: The variant rs10941679 is an intergenic single nucleotide polymorphism located on chromosome 5p12 [2]. It maps directly to a genomic enhancer element that physically loops to interact with the promoter regions of both FGF10 and MRPS30 [1]. The G allele of this variant increases the transcriptional activity of this enhancer, leading to elevated expression of both target genes in breast tissue [1]. Coordinated activation of an oncogene like FGF10 and a mitochondrial regulator like MRPS30 is thought to drive the pathogenesis of estrogen receptor-positive breast cancer [1]. Consequently, this variant is one of the most strongly replicated breast cancer susceptibility loci identified in genome-wide association studies [3].
Key Insight: This variant does not alter a protein sequence directly; instead, it acts like a long-distance volume dial, physically looping across DNA to boost the activity of two cancer-related genes simultaneously.
Location: FGF10. Chromosome 5 · 5p12 · 44.7 Mb
Estimated prevalence by population
Global 56.1%; European 56.0%; African 65.8%; East Asian 25.1%; South Asian 40.2%; Americas 43.5%; Ashkenazi 68.9%; Finnish 55.6%; Middle Eastern 54.2%; Amish 56.5%.
Estimated AA genotype frequency.
Global 37.0%; European 37.7%; African 30.6%; East Asian 50.0%; South Asian 46.4%; Americas 44.9%; Ashkenazi 28.2%; Finnish 37.9%; Middle Eastern 38.8%; Amish 37.3%.
Estimated AG genotype frequency.
Global 6.9%; European 6.3%; African 3.6%; East Asian 24.9%; South Asian 13.4%; Americas 11.6%; Ashkenazi 2.9%; Finnish 6.5%; Middle Eastern 7.0%; Amish 6.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 10/10. Source: PMID 25751625. Typical Risk.
ER-Positive Breast Cancer. Evidence: 10/10. Source: PMID 18438407. Typical Risk.
General Cancer Risk
General Cancer Risk. Evidence: 8/10. Source: PMID 32887889. Typical Risk.
Family Cancer History. Evidence: 8/10. Source: PMID 39024449. Typical.
Showing effects for A/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 25751625. ~1.13x Risk.
ER-Positive Breast Cancer. Evidence: 10/10. Source: PMID 18438407. Slightly Increased.
General Cancer Risk. Evidence: 8/10. Source: PMID 32887889. ~1.13x Risk.
Family Cancer History. Evidence: 8/10. Source: PMID 39024449. Associated.
Showing effects for G/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 25751625. ~1.27x Risk.
ER-Positive Breast Cancer. Evidence: 10/10. Source: PMID 18438407. Increased Risk.
General Cancer Risk. Evidence: 8/10. Source: PMID 32887889. Increased Risk.
Family Cancer History. Evidence: 8/10. Source: PMID 39024449. Strongly Associated.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Baseline genetic profiles for breast cancer risk are represented by this specific chromosome 5 locus [1]. Large-scale genome-wide association studies have shown that individuals with this genetic makeup do not have the elevated susceptibility linked to the G allele [2]. The A allele is the most common variant globally, occurring in approximately 75% of the population. Research indicates that this genotype is associated with typical, non-elevated levels of FGF10 and MRPS30 expression in breast tissue [3]. Because it lacks the risk-increasing variant, it is considered the protective or baseline genotype for estrogen receptor-positive breast cancer [4]. However, overall breast cancer risk is determined by a complex combination of many genetic variants, lifestyle factors, and family history.
Typical baseline risk of breast cancer; Typical expression of FGF10 and MRPS30 genes.
Sample genotype: AG (Heterozygous)
A modest increase in the risk of breast cancer is linked to one copy of the G allele, with studies showing an odds ratio of approximately 1.13 to 1.15 per risk allele [1]. This variant is located in an intergenic region on chromosome 5p12 and functions as an enhancer element [2]. It physically interacts with the promoter regions of the FGF10 and MRPS30 genes, leading to their increased expression [2]. FGF10 is a known oncogene that can promote cell growth, while MRPS30 is involved in cell survival and apoptosis pathways [2]. The association is particularly strong for estrogen receptor-positive breast cancer, which is the most common subtype [3]. While this genetic factor increases susceptibility, it is only one of many contributors, and most carriers do not develop the disease.
Slightly increased risk of breast cancer; Modestly increased expression of FGF10 and MRPS30.
Sample genotype: GG (Homozygous)
The highest genetic risk at this locus is found in those with two copies of the G allele, resulting in a cumulative increase in breast cancer susceptibility [1]. This variant acts as a genetic enhancer on chromosome 5p12, boosting the activity of the FGF10 and MRPS30 genes [2]. FGF10 acts as an oncogene that stimulates cell division, whereas MRPS30 regulates mitochondrial function and cell death pathways [2]. The increased expression of these genes in breast tissue is strongly associated with the development of estrogen receptor-positive breast cancer [3]. Large-scale meta-analyses confirm that this association is highly replicated across European and East Asian populations [4].
Increased risk of breast cancer; Elevated expression of FGF10 and MRPS30 in breast tissue.
Variants with shared genetic architecture
rs11075995 · FTO Gene · Chr 16 · Breast Cancer Risk
rs11249433 · EMBP1 Gene · Chr 1 · Breast Cancer Risk
rs1219648 · FGFR2 Gene · Chr 10 · Breast Cancer Risk
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com