What you carry at this position in your DNA and what research says about it.
Breast Cancer Risk: 10/10 evidence, 20 publications.
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Sample genotype (not yours): A/A
Typical Breast Cancer Risk
Two copies of the common A allele are associated with a baseline risk of developing breast cancer.
What this genotype means: Typical baseline risk for breast cancer; Standard NOTCH2 gene expression levels.
Sample genotype (not yours): A/G
Slightly Increased Breast Cancer Risk
One copy of the G allele is associated with a slightly higher risk of developing breast cancer, particularly estrogen receptor-positive types.
What this genotype means: Slightly elevated risk for estrogen receptor-positive breast cancer; Slightly increased NOTCH2 expression in breast tissue.
Sample genotype (not yours): G/G
Moderately Increased Breast Cancer Risk
Two copies of the G allele are associated with a moderately higher risk of developing breast cancer, especially estrogen receptor-positive subtypes.
What this genotype means: Moderately elevated risk for estrogen receptor-positive breast cancer; Increased NOTCH2 expression in breast tissue.
Gene function and biological role
Gene Function: The EMBP1 gene is a pseudogene located on chromosome 1. Although pseudogenes are traditionally considered non-functional evolutionary relics, this genomic region is highly active and sits in close proximity to the NOTCH2 gene [1]. NOTCH2 plays a critical role in cell differentiation, particularly in the development of luminal cells in the breast [1]. Alterations in this chromosomal region can influence the expression of nearby genes, potentially affecting how breast cells grow and divide [1] [2].
Variant Impact: Located in the 1p11.2 chromosomal region, rs11249433 is an intronic genetic change. This variant does not alter a protein directly but acts as a regulatory marker that correlates with the expression of the neighboring NOTCH2 gene [1]. Specifically, the G allele is associated with increased expression of NOTCH2 in estrogen receptor-positive breast tissue [1]. This regulatory shift is thought to promote the development of certain breast cancer subtypes [1] [2].
Key Insight: This genetic variant's primary impact is on estrogen receptor-positive breast cancers, having little to no effect on estrogen receptor-negative subtypes. Additionally, its frequency varies dramatically across ancestries, being very common in European populations but rare in East Asian populations.
Location: EMBP1. Chromosome 1 · 1p11.2 · 121.5 Mb
Estimated prevalence by population
Global 52.4%; European 35.2%; African 78.6%; East Asian 94.1%; South Asian 63.7%; Americas 51.6%; Ashkenazi 30.9%; Finnish 44.3%; Middle Eastern 36.7%; Amish 44.0%.
Estimated AA genotype frequency.
Global 37.5%; European 48.3%; African 20.1%; East Asian 5.8%; South Asian 32.2%; Americas 40.4%; Ashkenazi 49.4%; Finnish 44.5%; Middle Eastern 47.8%; Amish 44.7%.
Estimated AG genotype frequency.
Global 10.2%; European 16.5%; African 1.3%; East Asian 0.1%; South Asian 4.1%; Americas 7.9%; Ashkenazi 19.7%; Finnish 11.2%; Middle Eastern 15.6%; Amish 11.3%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 10/10. Source: PMID 19330030. Typical Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Vaginal Microbiome. Evidence: 3/10. Source: PMID 34282934. Typical Composition.
Showing effects for A/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 19330030. ~1.1x Increased Risk.
Vaginal Microbiome. Evidence: 3/10. Source: PMID 34282934. Altered Composition.
Showing effects for G/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 19330030. ~1.2x Increased Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the A allele represent the typical genetic baseline for breast cancer risk at this locus [1]. Large-scale genome-wide association studies have consistently shown that the A allele is protective compared to the G allele [1] [2]. This protective effect is particularly pronounced for estrogen receptor-positive breast cancers, which are the most common type [3]. Because this genotype is the global majority, it represents the standard reference risk in clinical models [2]. No significant alterations in the expression of the nearby NOTCH2 gene are expected with this genotype [4].
Typical baseline risk for breast cancer; Standard NOTCH2 gene expression levels.
Sample genotype: AG (Heterozygous)
One copy of the G allele is linked to a modest increase in breast cancer susceptibility [1]. Research indicates that this variant primarily influences the risk of estrogen receptor-positive breast tumors, with little impact on receptor-negative types [2]. The G allele correlates with higher expression of the NOTCH2 gene, which may promote the growth of hormone-sensitive breast cells [3]. This genetic association is well-documented in populations of European ancestry, whereas its impact in other populations is less pronounced due to lower allele frequencies [4]. While the risk is elevated, the absolute increase is small, and overall risk depends heavily on lifestyle and other genetic factors [1].
Slightly elevated risk for estrogen receptor-positive breast cancer; Slightly increased NOTCH2 expression in breast tissue.
Sample genotype: GG (Homozygous)
Two copies of the G allele are associated with the highest relative risk at this specific genetic locus [1]. Multiple large-scale studies have confirmed that the G/G genotype increases susceptibility to breast cancer, particularly estrogen receptor-positive and progesterone receptor-positive tumors [2] [3]. This variant is believed to act by upregulating the expression of the NOTCH2 gene, which plays a key role in mammary cell differentiation and tumor development [4]. The increased risk is most clearly established in individuals of European descent, where the G allele is relatively common [1]. Although this genotype elevates risk, it is not a direct cause of cancer, and routine screening guidelines remain the primary tool for monitoring breast health [2].
Moderately elevated risk for estrogen receptor-positive breast cancer; Increased NOTCH2 expression in breast tissue.
Variants with shared genetic architecture
rs10941679 · FGF10 Gene · Chr 5 · Breast Cancer Risk
rs11075995 · FTO Gene · Chr 16 · Breast Cancer Risk
rs1219648 · FGFR2 Gene · Chr 10 · Breast Cancer Risk
Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.
Content updated August 2026.
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