What you carry at this position in your DNA and what research says about it.
Breast Cancer Risk: 6/10 evidence, 34 publications.
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Sample genotype (not yours): G/G
Typical Breast Cancer Risk
Standard baseline risks for breast and prostate cancers are associated with the common G allele. This profile does not provide the protective benefits seen with the variant C allele.
What this genotype means: Typical baseline risk of breast cancer; Typical baseline risk of prostate cancer.
Sample genotype (not yours): C/C
Reduced Breast Cancer Risk
A significantly lower risk of breast cancer is associated with carrying two copies of the C allele. Protection against aggressive prostate cancer is also provided.
What this genotype means: Approximately 26% lower risk of breast cancer; Reduced risk of aggressive prostate cancer.
Sample genotype (not yours): G/C
Slightly Lower Breast Cancer Risk
A slightly reduced risk of developing breast cancer is linked to carrying one copy of the C allele. Some protection against aggressive prostate cancer may also be present.
What this genotype means: Approximately 11% lower risk of breast cancer; Reduced risk of aggressive prostate cancer.
Gene function and biological role
Gene Function: CASP8 encodes caspase-8, a key enzyme in the programmed cell death pathway. Apoptosis is essential for removing damaged or abnormal cells before they can replicate uncontrollably. Caspase-8 acts as an initiator caspase, translating external death signals into an execution cascade. Alterations in this gene can affect how efficiently the body clears pre-cancerous cells.
Variant Impact: The rs1045485 variant, also known as p.Asp285His or D302H, is a missense mutation in exon 10 of the CASP8 gene. This genetic change replaces the amino acid aspartate with histidine at position 285 of the caspase-8 protein. The alteration is hypothesized to subtly modify the self-processing and molecular interactions of the enzyme. Although the exact functional mechanism remains under investigation, this change is strongly associated with altered cancer susceptibility.
Key Insight: A single genetic letter change that reduces breast cancer risk can also influence tendon health and pediatric cancer outcomes.
Location: CASP8. Chromosome 2 · 2q33.1 · 201.3 Mb
Estimated prevalence by population
Global 81.5%; European 75.6%; African 86.9%; East Asian 99.9%; South Asian 92.4%; Americas 83.5%; Ashkenazi 87.9%; Finnish 81.3%; Middle Eastern 86.2%; Amish 53.0%.
Estimated GG genotype frequency.
Global 17.4%; European 22.7%; African 12.6%; East Asian 0.1%; South Asian 7.4%; Americas 15.8%; Ashkenazi 11.7%; Finnish 17.7%; Middle Eastern 13.3%; Amish 39.6%.
Estimated GC genotype frequency.
Global 1.1%; European 1.7%; African 0.5%; East Asian < 0.1%; South Asian 0.1%; Americas 0.7%; Ashkenazi 0.4%; Finnish 1.0%; Middle Eastern 0.5%; Amish 7.4%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 6/10. Source: PMID 15601643. Typical Risk.
Prostate Cancer
Prostate Cancer. Evidence: 3/10. Source: PMID 20033885. Typical Risk.
Cancer Prognosis & Treatment Outcome
Neuroblastoma Prognosis. Evidence: 3/10. Source: PMID 25502557. Typical Survival.
Lifestyle, Fitness & Aging
Injury Risk & Recovery
Achilles Tendon Injury. Evidence: 3/10. Source: PMID 22588838. Typical Risk.
Showing effects for C/C genotype
Breast Cancer. Evidence: 6/10. Source: PMID 15601643. ~26% Lower Risk.
Prostate Cancer. Evidence: 3/10. Source: PMID 20033885. Reduced Risk.
Neuroblastoma Prognosis. Evidence: 3/10. Source: PMID 25502557. Worse Survival.
Achilles Tendon Injury. Evidence: 3/10. Source: PMID 22588838. Increased Risk.
Showing effects for G/C genotype
Breast Cancer. Evidence: 6/10. Source: PMID 15601643. ~11% Lower Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Standard cellular function is maintained by the common G allele, which encodes aspartate at position 285 of the caspase-8 protein. Individuals with this profile have a standard baseline risk for developing breast cancer. Large-scale association studies and meta-analyses confirm that this genotype does not carry the protective effect against breast or aggressive prostate cancers associated with the minor C allele. However, it is also associated with typical baseline risks for Achilles tendinopathy. In rare cases of MYCN-amplified neuroblastoma, this genotype is linked to standard survival outcomes compared to carriers of the variant allele.
Typical baseline risk of breast cancer; Typical baseline risk of prostate cancer.
Sample genotype: CC (Homozygous)
Two copies of the variant C allele result in histidine at position 285 of the caspase-8 enzyme. Research indicates that having two copies of this variant reduces breast cancer risk by approximately 26%. It is also linked to a decreased risk of aggressive prostate carcinoma. While highly protective against these cancers, the genotype is associated with an increased risk of Achilles tendinopathy. Additionally, in patients with MYCN-amplified neuroblastoma, carrying two copies of this variant is associated with worse survival rates.
Approximately 26% lower risk of breast cancer; Reduced risk of aggressive prostate cancer.
Sample genotype: GC (Heterozygous)
A single copy of the variant C allele replaces aspartate with histidine in the caspase-8 protein. Multiple large-scale studies demonstrate that this single-copy change reduces breast cancer risk by approximately 11%. The variant is also associated with a lower risk of developing aggressive prostate carcinoma. However, this genetic change may have other minor trade-offs, such as a slightly higher susceptibility to Achilles tendinopathy. In the specific context of MYCN-amplified neuroblastoma, carriers of this allele have shown worse survival outcomes.
Approximately 11% lower risk of breast cancer; Reduced risk of aggressive prostate cancer.
Variants with shared genetic architecture
rs10931936 · CASP8 Gene · Chr 2 · Skin and Cancer Risk
rs3769823 · CASP8 Gene · Chr 2 · Cancer Susceptibility
rs2242652 · TERT Gene · Chr 5 · Cancer Risk Trade-offs
Content updated August 2026.
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