The contribution of Neanderthal ancestry to cancer risk

Neanderthal ancestry variants are linked to germline risk for 12 of 17 cancer types, with 32 likely causal fine-mapped associations across seven cancers.

• Why it matters: Neanderthal-derived DNA is known to affect immune and metabolic traits relevant to cancer, but its comprehensive impact on inherited cancer risk remained unclear.
• What they did: The study assessed GWAS hits for 17 cancer types, then fine-mapped Neanderthal-associated loci to identify 32 associations with posterior inclusion probability ≥ posterior inclusion probability; it also tested heritability enrichment in Neanderthal-ancestry regions using UK Biobank.
• The result: Neanderthal variants are depleted for most cancers, yet enriched for breast cancer heritability in both East Asian and Europeans, replicating in individual-level UK Biobank data.

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