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Significantly increased load of hereditary cancer-linked germline variants in infertile men

1 Jan 2025

Abstract excerpt

Abstract STUDY QUESTION What is the load and profile of hereditary cancer-linked germline variants in infertile compared to fertile men? SUMMARY ANSWER This study showed almost 5-fold enrichment of disease-causing findings in hereditary cancer genes in infertile compared to fertile men (6.9% vs 1.5%, P = 2.3 × 10−4). WHAT IS KNOWN ALREADY Epidemiological studies have revealed that men with low sperm count have a...

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PMID: 40060932
DOI: 10.1093/hropen/hoaf008

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