Science Update: Relatives of men with infertility may be at higher risk for certain cancers, NIH-funded study suggests

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A study funded by the National Institutes of Health suggests that the relatives of men with no or a very low sperm count may be at higher risk for cancers of the bones, joints, colon, uterus, thyroid, and testes. The findings may lead to new insights into the environmental and genetic risk factors for certain cancers and to new ways for identifying people at risk for them.

The study was conducted by Joemy M. Ramsay, Ph.D., and James M. Hotaling, M.D., of the University of Utah, and colleagues. It appears in Human Reproduction. Funding was provided by NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Background

Reduced male fertility has been linked to poor health outcomes, including greater risk of hospitalization and shorter lifespan. It has also been linked to greater risk for prostate and testicular cancers. Other research has suggested that relatives of men with low fertility may have a greater risk for testicular, thyroid, and childhood cancers.

Results

For the current study, researchers sought to understand if cancer risk varied among relatives of men with no or low levels of sperm, if it was present in all families of subfertile men or in only a few families with very high risk.

Researchers matched records of 786 men with no or low sperm evaluated at fertility clinics in Utah with information on nearly 5,700 men in the general population who had at least one child (ensuring they were fertile), who served as the control group. From a statewide population database, the authors identified records of the men’s family members: parents, siblings and children, first cousins, great-grandparents, great-aunts and uncles, great-nieces and nephews, great-grandchildren, and half-aunts and uncles. The authors identified cancer diagnoses through a state cancer registry.

Compared to controls, relatives of men who produced no sperm had a significantly greater risk for five cancers: bone and joint cancer (156% greater), soft tissue cancers such as sarcomas (56% greater), cancers of the uterus (27% greater), Hodgkin lymphomas (60% greater), and thyroid cancers (54% greater).

Relatives of men with low sperm had a greater risk for colon cancer (16% greater), bone and joint cancer (143% greater), and testicular cancer (134% greater). The researchers also found a 61% lower risk for cancer of the esophagus in relatives of these men.

Cancer risk and type of cancer varied greatly among the families of men with fertility problems.

Significance

“When family members share cancer risk patterns, it suggests that they have genetic, environmental, or health behaviors in common,” said Dr. Ramsay. “By identifying which groups of families have similar cancer risk patterns we can improve our understanding of the biological mechanisms of both cancer and infertility.”

Reference

Ramsay, JM, et al. Describing patterns of familial cancer risk in subfertile men using population pedigree data. Human Reproduction. 2024.