Abstract 1289: Breast cancer predisposition in multiple endocrine neoplasia type 1

Abstract

Abstract Recent genetic and animal studies have suggested that the Multiple Endocrine Neoplasia type 1 (MEN1) gene is involved in breast carcinogenesis. In addition, the MEN1 gene product menin is a regulator of estrogen receptor alpha function in vitro. In this retrospective study in two independent cohorts we aimed to investigate the prevalence of breast cancer in female MEN1 patients and to characterize MEN1-related breast tumors. The Dutch MEN1 cohort contains data from 190 female MEN1 patients from 1990-2011. The second cohort from the U.S. has data from 68 female patients from 2004-2013. Observations were matched with demographic and cancer incidence and prevalence information from the general Dutch and U.S. populations. Breast cancer tissues from MEN1 patients were analyzed immunohistochemically and loss of heterozygosity (LOH) at the MEN1 gene locus was assessed. Females with MEN1 were found to be at increased risk to develop breast cancer (relative risks 2.83 and 3.20). Eighty percent of MEN1-related breast tumors showed loss of expression of menin and in a subset also loss of heterozygosity at the MEN1 gene locus was found. MEN1 is a breast cancer susceptibility syndrome. Further research will determine the relevance of the MEN1 gene for patients with non-familial breast cancer. Intensified breast cancer screening should be considered for female MEN1 patients. Citation Format: Koen Dreijerink, Elfi Conemans, Chantal Cornelissen, Marja Van Blokland, Michael Mannstadt, Carla Pieterman, Wouter De Herder, Bas Havekes, Eric Fliers, Ad Hermus, Menno Vriens, Marc Timmers, Elsken Van der Wall, Myles Brown, Rob Van der Luijt, Paul van Diest, Gerlof Valk. Breast cancer predisposition in multiple endocrine neoplasia type 1. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 1289. doi:10.1158/1538-7445.AM2014-1289