What you carry at this position in your DNA and what research says about it.
Breast Cancer Risk: 10/10 evidence, 41 publications.
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Sample genotype (not yours): A/A
Higher Breast Cancer Risk
An estimated 1.24-fold increase in breast cancer risk is associated with the A/A genotype. This association is particularly notable for estrogen receptor-positive tumors.
What this genotype means: ~1.24x higher relative risk of breast cancer; Increased susceptibility to estrogen receptor-positive tumors.
Sample genotype (not yours): A/G
Slightly Higher Breast Cancer Risk
An estimated 1.12-fold increase in breast cancer risk is associated with the A/G genotype. This effect is observed across both hormone-receptor-positive and receptor-negative subtypes.
What this genotype means: ~1.12x higher relative risk of breast cancer; Slightly increased susceptibility to hormone-sensitive tumors.
Sample genotype (not yours): G/G
Typical Breast Cancer Risk
Typical baseline risk of breast cancer is maintained with the G/G genotype. This genetic profile avoids the elevated risk linked to the A allele.
What this genotype means: Typical baseline risk of breast cancer; No elevated risk from the 2q35 locus.
Gene function and biological role
Gene Function: IGFBP-AS1 (insulin-like growth factor binding protein antisense RNA 1) is a long non-coding RNA gene located on chromosome 2q35. It is situated near the IGFBP5 gene, which plays a critical role in cell growth, survival, and breast tissue development. Studies suggest that genetic variation in this region can influence the expression of nearby genes involved in hormone signaling and cell proliferation [1]. This genomic locus has been heavily studied for its strong association with hormone-sensitive cancers [2].
Variant Impact: Located within the IGFBP-AS1 gene region on chromosome 2q35, rs13387042 is an intron variant. The A allele of this variant is a well-established risk factor for breast cancer, particularly estrogen receptor-positive subtypes [1]. Fine-mapping and functional studies suggest that this genomic region acts as a transcriptional enhancer that interacts with the promoter of nearby growth factors [3]. This genetic marker has been replicated across multiple large-scale genome-wide association studies [4].
Key Insight: The risk associated with this variant applies to both estrogen receptor-positive and receptor-negative breast cancers, though the link is slightly stronger in hormone-receptor-positive cases.
Location: IGFBP5. Chromosome 2 · 2q35 · 217.0 Mb
Estimated prevalence by population
Global 32.4%; European 26.4%; African 53.5%; East Asian 1.0%; South Asian 26.0%; Americas 18.3%; Ashkenazi 30.3%; Finnish 27.5%; Middle Eastern 39.3%; Amish 35.9%.
Estimated AA genotype frequency.
Global 45.8%; European 50.0%; African 39.3%; East Asian 17.7%; South Asian 50.0%; Americas 49.0%; Ashkenazi 49.5%; Finnish 49.9%; Middle Eastern 46.8%; Amish 48.0%.
Estimated AG genotype frequency.
Global 21.8%; European 23.7%; African 7.2%; East Asian 81.4%; South Asian 24.0%; Americas 32.7%; Ashkenazi 20.2%; Finnish 22.6%; Middle Eastern 13.9%; Amish 16.1%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 10/10. Source: PMID 17529974. ~1.24x Increased Risk.
General Cancer Risk
Hormone-Sensitive Cancer. Evidence: 6/10. Source: PMID 35729236. Increased Risk.
Showing effects for A/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 17529974. ~1.12x Increased Risk.
Hormone-Sensitive Cancer. Evidence: 6/10. Source: PMID 35729236. Slightly Increased.
Showing effects for G/G genotype
Breast Cancer. Evidence: 10/10. Source: PMID 17529974. Typical Risk.
Hormone-Sensitive Cancer. Evidence: 6/10. Source: PMID 35729236. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Inheriting the A/A genotype at this locus on chromosome 2q35 is linked to a moderately increased susceptibility to breast cancer [1]. Large-scale genetic studies, including those by the Breast Cancer Association Consortium, have consistently identified this variant as a key risk factor [2]. The risk applies to both invasive breast cancer and ductal carcinoma in situ [3]. This genetic influence is thought to operate by altering the regulation of nearby growth factors that control cell division in breast tissue [4]. While this variant increases relative risk, it is one of many genetic and lifestyle factors that contribute to overall susceptibility.
~1.24x higher relative risk of breast cancer; Increased susceptibility to estrogen receptor-positive tumors.
Sample genotype: AG (Heterozygous)
A single copy of the A allele at this locus is associated with a modest increase in breast cancer susceptibility [1]. Research involving tens of thousands of women has confirmed this incremental risk across diverse populations [2]. The association remains consistent regardless of estrogen receptor or progesterone receptor status, though it is slightly more pronounced in receptor-positive cases [3]. This variant resides in a gene-rich region on chromosome 2q35 that influences hormone-sensitive tissues [4]. Understanding this genetic marker helps paint a clearer picture of polygenic risk, where multiple small-effect variants combine to influence overall health.
~1.12x higher relative risk of breast cancer; Slightly increased susceptibility to hormone-sensitive tumors.
Sample genotype: GG (Homozygous)
The G/G genotype represents the baseline genetic profile at this locus [1]. Multiple genome-wide association studies have shown that individuals with this genotype do not experience the elevated breast cancer risk associated with the A allele [2]. This baseline status applies to both estrogen receptor-positive and receptor-negative forms of the disease [3]. The G allele is thought to maintain normal regulatory control over nearby genes involved in cell growth and tissue development [4]. While this genotype is favorable, overall breast cancer risk is still influenced by other genetic markers, family history, and lifestyle factors.
Typical baseline risk of breast cancer; No elevated risk from the 2q35 locus.
Variants with shared genetic architecture
rs10941679 · FGF10 Gene · Chr 5 · Breast Cancer Risk
rs11075995 · FTO Gene · Chr 16 · Breast Cancer Risk
rs11249433 · EMBP1 Gene · Chr 1 · Breast Cancer Risk
Genome-wide association study identifies five new breast cancer susceptibility loci.
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
Content updated August 2026.
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