The Risk and Clinical/Molecular Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1
Technical Report,30 Sep 2014,18 Aug 2015
Henry Ford Health System Henry Ford Health SystemDetroit United States
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The occurrence of breast cancer is increased in women affected with Neurofibromatosis type 1 NF1. This study is aimed at identifying an accurate incidence of breast cancer in this group of women in a multi-center collaborative environment. There are 4 specific aims. Aim 1 is to confirm the increased breast cancer risk in women with NF1. Aim 2 is to analyze the germline NF1 gene and whole exome in the subjects with history of breast cancer. Aim 3 is to determine if NF1 associated breast cancers have unique characteristic signaling pathways or molecular tumorigenesis. Aim 4 is to study the phenotype of NF1 knockdown in primary mammary epithelial cells, specifically focused on the senescence effect due to Ras activation.