A groundbreaking study by researchers at the University of Tartu has revealed a nearly fivefold increase in hereditary cancer-related genetic variants among infertile men compared to their fertile counterparts. The findings, published in Human Reproduction Open, suggest that genetic predisposition may explain the heightened cancer risk observed in men with infertility.
Infertility affects approximately one in ten men and has been recognized as an independent risk factor for various chronic illnesses. According to Anu Valkna, a Junior Research Fellow at the University of Tartu’s Chair of Human Genetics and one of the study’s authors, previous research has already linked lower sperm counts to an increased lifetime cancer risk.
“Not only infertile men but also their relatives have been found to have a higher incidence of cancer. We wanted to determine whether this correlation could be attributed to genetic factors,” Valkna explained.
To investigate this potential link, researchers collaborated with the Andrology Clinic of Tartu University Hospital, analyzing the genetic profiles of over 500 men with unexplained infertility. Using an advanced analysis pipeline developed at the University of Tartu, they examined more than 150 hereditary cancer genes.
The results revealed that infertile men carried cancer-related genetic variants nearly five times more frequently than fertile men. Specifically, one in 15 infertile men was found to harbor a predisposing genetic mutation, compared to just one in 64 fertile men.
“This genetic susceptibility may explain why infertile men face a higher cancer risk. Their bodies are inherently more vulnerable to cancer due to these inherited variants,” Valkna stated.
Additionally, several study participants had already been diagnosed with cancer, and many had a family history of the disease, further reinforcing the genetic link.
“Our findings support the idea that hereditary cancer predisposition runs in these families. However, because hereditary cancer syndromes often manifest later in life, we were unable to fully assess the prevalence of cancer among our study participants,” Valkna noted.
Beyond its scientific significance, the study carries important clinical implications.
“Men typically seek medical attention for infertility at a younger age, long before potential cancer diagnoses. Identifying those with a genetic predisposition early on could enable closer monitoring and preventive interventions,” Valkna explained. “Moreover, as certain hereditary cancer syndromes disproportionately affect female family members, detecting at-risk individuals could provide vital clinical benefits for entire families.”
These findings highlight the importance of genetic screening in infertile men, potentially paving the way for more proactive cancer risk management in this population.
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