A recent study led by researchers at the University of Tartu reveals a significant genetic connection between male infertility and an increased risk of developing cancer. Published in Human Reproduction Open, the study highlights that men suffering from infertility are nearly five times more likely to carry hereditary cancer variants compared to their fertile counterparts.
The research, titled “Significantly Increased Load of Hereditary Cancer–Linked Germline Variants in Infertile Men,” sheds light on the genetic underpinnings that may contribute to both infertility and cancer susceptibility. With one in 10 men experiencing infertility, a condition often linked to various chronic diseases, the findings suggest a deeper genetic predisposition at play. Anu Valkna, Junior Research Fellow at the Chair of Human Genetics at the University of Tartu and one of the study’s authors, explained that previous research has shown a higher cancer risk in men with lower sperm counts. This new study expands on that knowledge by investigating whether genetic factors could explain the heightened risk.
In partnership with the Andrology Clinic at Tartu University Hospital, researchers analyzed genetic data from over 500 men diagnosed with unexplained infertility. They utilized a specialized analysis pipeline to examine over 150 genes known to be associated with hereditary cancers. The findings revealed that infertile men were nearly five times more likely to possess genetic mutations linked to cancer compared to men with normal fertility.
Valkna further elaborated on the discovery, stating, “We found that one in 15 infertile men carried a genetic variant that predisposes them to cancer, compared to just one in 64 fertile men. This could explain why infertile men have a higher cancer risk—these men are genetically more vulnerable to developing cancer.”
Additionally, the research team observed that several participants had already been diagnosed with cancer, and many had a family history of the disease. This strengthens the idea that hereditary factors contribute to the increased cancer risk in these men.
Despite these findings, the study’s authors noted that they were unable to assess the cancer prevalence within the infertile group, as hereditary cancer syndromes often manifest later in life, beyond the typical age range of the study participants.
Valkna pointed out the broader clinical implications of these results, emphasizing that men often seek help for infertility at younger ages—before cancer diagnoses are typically made. “Early detection of genetic predisposition to cancer would allow for more effective monitoring and early interventions,” she said. Additionally, since certain hereditary cancer syndromes disproportionately affect female family members, identifying at-risk individuals within the family could provide substantial clinical value for those impacted.
This groundbreaking research underscores the importance of genetic screening in understanding the connections between infertility and cancer, potentially offering new avenues for early intervention and family-based health management.
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