Increased risk of breast cancer in neurofibromatosis type 1: current insights.
AffiliationDepartment of Medical Oncology, The Christie NHS Foundation Trust
MetadataShow full item record
AbstractNeurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the NF1 gene. The gene product, neurofibromin, is a tumor suppressor which represses the activity of the Ras oncogene. Central nervous system (CNS) tumors have long been associated with NF1, but their association with several other malignancies has been demonstrated. In this review, we summarize the epidemiological data that irrefutably support a link between NF1 and an increased risk of early-onset breast cancer, to levels at which annual mammography is currently recommended in national high-risk screening programs. We discuss the reasons for the observed adverse breast cancer prognosis in NF1 cases, including late presentation and more aggressive tumor subtypes, and recommend that a collaborative breast screening study be initiated to better serve this currently underserved population of women.
CitationIncreased risk of breast cancer in neurofibromatosis type 1: current insights. 2017, 9:531-536 Breast Cancer
- NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.
- Authors: Maani N, Westergard S, Yang J, Scaranelo AM, Telesca S, Thain E, Schachter NF, McCuaig JM, Kim RH
- Issue date: 2019 May 22
- Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
- Authors: Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Díez O
- Issue date: 2013 Jun
- The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.
- Authors: Yang Q, Huang C, Yang X, Feng Y, Wang Q, Liu M
- Issue date: 2008 Feb
- Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.
- Authors: Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ
- Issue date: 2015 Mar
- A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
- Authors: Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA
- Issue date: 2015 Dec