It’s Rare, But Yet Another Breast Cancer Gene Identified
Women with a rare gene mutation and associated hereditary endocrine disease are at an increased risk for breast cancer, according to a letter published in the August 7 issue of the New England Journal of Medicine.
The rare disease is known as multiple endocrine neoplasia type 1, or MEN1, and is caused by germline mutations in the MEN1 tumor-suppressor gene.
MEN1 patients are susceptible to various benign and malignant tumors, such as parathyroid tumors, duodenopancreatic neuroendocrine tumors, and pituitary adenomas.
Now, an international team of researchers has discovered that female patients with MEN 1 are also more likely to have breast cancer than members of the general population. In addition, they tend to develop breast cancer at a much younger age.
“Intensified breast cancer screening at a relatively young age should be considered in female patients with MEN1,” write the authors, led by Gerlof Valk, MD, PhD, from the University Medical Center Utrecht in the Netherlands.
The researchers first assessed the incidence of breast cancer in the Dutch longitudinal MEN1 database.
They found that 10 of the 190 females with MEN1 and confirmed germline mutations had breast cancer. This translated into a nearly 3-fold risk for invasive breast cancer (relative risk, 2.83; P < .001). In the study cohort, the average age at breast cancer diagnosis was 48 years; in the general Dutch population, the average age at diagnosis is 60 to 65 years.
Notably, the risk ratios for other cancers in these women were not elevated.
The researchers validated their observations in 3 other cohorts, which comprised 675 women from France, Tanzania, and the United States.
In the 3 validation cohorts combined, the standardized incidence ratio was 1.96 (95% confidence interval, 1.33 – 2.88) and the average age at diagnosis was 51 years.
“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,” Dr. Valk said in a press statement.
The team’s letter was published in the same issue in which another mutation (of the PALB2 gene) was reported to significantly increase risk for breast cancer in women, as reported by Medscape Medical News.
N Engl J Med. 2014;371:583-584.