What you carry at this position in your DNA and what research says about it.
Breast and Ovarian Cancer: 8/10 evidence, 13 publications.
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Sample genotype (not yours): G/G
Typical Breast and Ovarian Cancer Risk
Two copies of the common G allele are present. This genotype is associated with baseline risk levels for breast and ovarian cancers.
What this genotype means: Typical baseline risk for breast cancer; Typical baseline risk for ovarian cancer.
Sample genotype (not yours): A/A
Increased Breast and Ovarian Cancer Risk
Two copies of the risk-increasing A allele are present. This genotype is associated with a higher susceptibility to breast and ovarian cancers.
What this genotype means: Increased risk of breast cancer; Increased risk of ovarian cancer.
Sample genotype (not yours): G/A
Slightly Increased Breast and Ovarian Cancer Risk
One copy of the risk-increasing A allele is present. This genotype is associated with a modest increase in susceptibility to breast and ovarian cancers.
What this genotype means: Slightly increased risk of breast cancer; Slightly increased risk of ovarian cancer.
Gene function and biological role
Gene Function: BABAM1 encodes a subunit of the BRISC and BRCA1-A complexes, which are critical for DNA double-strand break repair and cell cycle checkpoint control [1]. It interacts directly with BRCA1 and RAP80 to maintain genomic stability [1]. Alterations in this gene can impair the cellular response to DNA damage, potentially leading to tumor development [2]. Research suggests that variations in this pathway modify susceptibility to hormone-related cancers [2].
Variant Impact: rs8170 is a synonymous single nucleotide variant located in the BABAM1 gene on chromosome 19. Although it does not change the amino acid sequence of the protein, it is located in a region that modifies susceptibility to breast and ovarian cancers [1]. It is hypothesized to influence gene expression or splicing of nearby genes [2]. The A allele is the risk-increasing variant [1].
Key Insight: This synonymous variant does not alter the protein sequence but still significantly impacts cancer risk by modifying gene expression.
Location: BABAM1. Chromosome 19 · 19p13.11 · 17.3 Mb
Estimated prevalence by population
Global 68.6%; European 66.1%; African 65.4%; East Asian 99.7%; South Asian 79.7%; Americas 79.6%; Ashkenazi 68.5%; Finnish 58.1%; Middle Eastern 83.1%; Amish 83.6%.
Estimated GG genotype frequency.
Global 28.2%; European 30.4%; African 31.0%; East Asian 0.3%; South Asian 19.1%; Americas 19.2%; Ashkenazi 28.5%; Finnish 36.3%; Middle Eastern 16.1%; Amish 15.6%.
Estimated GA genotype frequency.
Global 3.2%; European 3.5%; African 3.7%; East Asian < 0.1%; South Asian 1.1%; Americas 1.2%; Ashkenazi 3.0%; Finnish 5.7%; Middle Eastern 0.8%; Amish 0.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 8/10. Source: PMID 20852631. Typical Risk.
Triple-Negative Breast Cancer. Evidence: 8/10. Source: PMID 22331459. Typical Risk.
ER-Negative Breast Cancer. Evidence: 8/10. Source: PMID 27117709. Typical Risk.
Gynecological Cancers
Ovarian Cancer. Evidence: 6/10. Source: PMID 20852633. Typical Risk.
Showing effects for A/A genotype
Breast Cancer. Evidence: 8/10. Source: PMID 20852631. Increased Risk.
Triple-Negative Breast Cancer. Evidence: 8/10. Source: PMID 22331459. Increased Risk.
ER-Negative Breast Cancer. Evidence: 8/10. Source: PMID 27117709. Increased Risk.
Ovarian Cancer. Evidence: 6/10. Source: PMID 20852633. ~1.12x Increased Risk.
Showing effects for G/A genotype
Ovarian Cancer. Evidence: 6/10. Source: PMID 20852633. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Baseline risk levels are typical for those who do not inherit the risk-increasing A variant at this locus. Large-scale genome-wide association studies have shown that this genetic profile is associated with typical baseline susceptibility to breast and ovarian cancers [1]. This includes a typical risk profile for specific subtypes like estrogen receptor-negative and triple-negative breast cancers [2]. The absence of the risk allele means there is no elevated genetic pressure from this specific marker. However, overall cancer risk is also influenced by other genetic factors, family history, and lifestyle choices. Understanding this baseline status helps paint a clearer picture of your overall genetic landscape.
Typical baseline risk for breast cancer; Typical baseline risk for ovarian cancer.
Sample genotype: AA (Homozygous)
Elevated susceptibility to breast and ovarian cancers is associated with inheriting two copies of the A allele. Studies have demonstrated that this genotype significantly increases susceptibility to epithelial ovarian cancer [1]. It is also strongly linked to estrogen receptor-negative and triple-negative breast cancers, which are often more aggressive subtypes [2]. While the relative risk is increased, the absolute risk depends heavily on other genetic markers, environmental factors, and lifestyle. The underlying biological mechanism may involve altered regulation of DNA damage response pathways.
Increased risk of breast cancer; Increased risk of ovarian cancer.
Sample genotype: GA (Heterozygous)
Slightly elevated susceptibility to breast and ovarian cancers is associated with inheriting one copy of the A allele. Research indicates that this variant particularly modifies risk in individuals who also carry BRCA1 mutations [1]. It is also associated with a higher susceptibility to hormone receptor-negative subtypes, such as triple-negative breast cancer, in the general population [2]. The increase in risk is modest, and many people with this genotype never develop cancer. This genetic marker is thought to influence the expression of nearby genes involved in DNA repair pathways.
Slightly increased risk of breast cancer; Slightly increased risk of ovarian cancer.
Variants with shared genetic architecture
rs80357131 · BRCA1 Gene · Chr 17 · Breast and Ovarian Cancer Risk
rs142074233 · BRCA1 Gene · Chr 17 · Breast Cancer Risk
rs16941 · BRCA1 Gene · Chr 17 · Breast Cancer Risk
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
Content updated August 2026.
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