Howell Sacha J, Hockenhull Kimberley, Salih Zena, Evans D Gareth
Department of Medical Oncology, The Christie NHS Foundation Trust.
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre.
Breast Cancer (Dove Med Press). 2017 Aug 21;9:531-536. doi: 10.2147/BCTT.S111397. eCollection 2017.
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the 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.
1型神经纤维瘤病（NF1）是一种由该基因突变/缺失引起的常染色体显性疾病。该基因产物神经纤维瘤蛋白是一种肿瘤抑制因子，可抑制Ras癌基因的活性。中枢神经系统（CNS）肿瘤长期以来一直与NF1相关，但它们与其他几种恶性肿瘤的关联也已得到证实。在本综述中，我们总结了确凿支持NF1与早发性乳腺癌风险增加之间存在联系的流行病学数据，其风险水平达到了目前国家高风险筛查项目中建议每年进行乳腺钼靶检查的程度。我们讨论了NF1病例中观察到的不良乳腺癌预后的原因，包括就诊延迟和更具侵袭性的肿瘤亚型，并建议启动一项协作性乳腺筛查研究，以更好地服务于目前未得到充分服务的这一女性群体。
