Women with a mutation of the MEN1 gene have a higher risk of developing breast cancer. The disease also affects them at a younger age. These findings from research at the University Medical Center (UMC) Utrecht were published today in the New England Journal of Medicine.
MEN1 is the acronym for Multiple Endocrine Neoplasia type 1, a rare hereditary disease in which a mutation of the MEN1 gene on chromosome 11 makes patients susceptible to developing both benign and malignant tumors on hormone-producing organs such as the parathyroid gland, the pancreas and the pituitary gland. There are some 400 patients with the MEN1 syndrome in the Netherlands.
As animal studies have suggested a link between the MEN1 gene and breast cancer, researchers at UMC Utrecht studied the risk of breast cancer in women suffering from the rare MEN1 syndrome. The study was conducted using the database of the 'DutchMEN1 Study Group', which contains data from Dutch UMCs on over 90 percent of all MEN1 patients aged 16 and over living in the Netherlands.
Higher risk of breast cancer at a younger age
A study of 190 female Dutch MEN1 patients showed that, among the women with a gene anomaly in the MEN1 gene, the probability of developing breast cancer is almost three times greater and that the disease occurs at a relatively young age (relative risk 2.83, 95% CI 1.18-3.86, p<0.001). The average age at diagnosis was 48. The results were subsequently confirmed in three studies among a total of 675 women with the MEN1 anomaly in Australia, the United States and France.
"Our study demonstrates for the first time that, in addition to the known risk of endocrine tumors, women with a mutation of the MEN1 gene also run a greater risk of developing breast cancer," said Dr. Gerlof Valk, the lead researcher of the study who is affiliated with the UMC Utrecht as an endocrinologist. "Based on this finding, we will contact the Netherlands' clinical genetics association (Vereniging Klinische Genetica Nederland) and screening organizations to discuss whether women with a mutation of the MEN1 gene should be regularly screened for breast cancer from an early age onwards. That way, breast cancer can be detected earlier."
Early treatment is always better
"It is important that women with the MEN1 syndrome now know that they have to be aware that they run the risk of developing breast cancer, because early treatment is always better," said Prof. Dr. Elsken van der Wall, a medical oncologist working for the UMC Utrecht Cancer Center.