Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high proliferation of the epithelium. Patients with more than 3 fibroadenomas in 1 breast are considered to have multiple fibroadenomas (summary by Bogorad et al., 2008). ... Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high proliferation of the epithelium. Patients with more than 3 fibroadenomas in 1 breast are considered to have multiple fibroadenomas (summary by Bogorad et al., 2008).
In 74 Caucasian women with multiple fibroadenomas of the breast, who were negative for mutation in the prolactin gene (PRL; 176760), Bogorad et al. (2008) analyzed the PRLR gene and identified a missense mutation (I146L; 176761.0001) in 4 ... In 74 Caucasian women with multiple fibroadenomas of the breast, who were negative for mutation in the prolactin gene (PRL; 176760), Bogorad et al. (2008) analyzed the PRLR gene and identified a missense mutation (I146L; 176761.0001) in 4 unrelated patients. The mutation was not found in 96 control women over 35 years of age who had no history of benign or malignant breast disease, no pituitary disorder, and normal PRL levels, or in a random population of 74 women or the NCBI database. In vitro studies demonstrated that the mutation results in a constitutively active receptor, which was confirmed by increased signaling in patient breast tissue. None of the mutation-positive patients displayed any obvious signs of hyperprolactinemia, although the authors noted that full clinical phenotyping was not performed. Newey et al. (2013) questioned the in vivo significance of the I146L variant, noting that it had been reported as a polymorphism (dbSNP rs72478580) occurring at 2.39% in a European American population in the Exome Variant Server of the NHLBI GO Exome Sequencing Project.