Clinical Genetic Studies of Familial and Hereditary Cancer Syndromes

临床遗传学分支（CGB）是NCI研究壁内临床癌症的基础 遗传学转化研究活动。广发银行带来了多学科，流行病学 观点：了解基因在病因，治疗和预防中的作用 为高危个人和家庭制定综合管理战略; 培养下一代临床癌症遗传学研究人员。遗传学 乳腺癌/卵巢癌（HBOC）基于33例BRCA突变阳性患者的前瞻性队列， 具有大量临床/流行病学数据和生物样本的家庭。临床活性 与这项研究有关的研究已经结束，但其生物标本继续被用于多个 翻译研究项目。对这些人群乳腺癌风险的最新分析 前瞻性监测的家庭表明，来自这些家庭的突变阴性妇女， 突变阳性家庭的风险与一般家庭相似， 人口迄今为止，已发表20篇临床手稿，40份报告，加上8份 正在审查的手稿（与国际联合会CIMBA合作） 阐明BRCA相关的乳腺癌和卵巢癌的遗传修饰基因， 公开.针对范可尼贫血（FA）的遗传性骨髓衰竭综合征（IBMFS）研究 和相关疾病，包括高风险的再生障碍性贫血，骨髓增生异常综合征 (MDS)急性髓性白血病（AML）和选定的实体瘤。我们已经招募了1722名会员 来自406个IBMFS家庭。主要发现包括FA和角化不良的定量估计 先天性（DC）相关癌症风险，确定先天性（DC）相关癌症风险的惊人相似性 这两种疾病，扩大这些综合征的临床表型，并确定非常 短端粒是DC的特征性表现。在范科尼贫血研究基金会的资助下，我们 正在写一份关于FA患者免疫功能的报告。我们合作开发了一种 害虫体外测定

The Clinical Genetics Branch (CGB) is NCI's base for intramural clinical cancer genetics translational research activity. CGB brings a multidisciplinary, epidemiologic perspective to: Understanding the role of genes in the cause, treatment, and prevention of cancer; Developing comprehensive management strategies for high-risk individuals and families; and Training the next generation of clinical cancer genetics investigators.Hereditary Breast/Ovarian Cancer (HBOC) is based on a prospective cohort of 33 BRCA mutation-positive families with extensive clinical/epidemiologic data and biological samples. Clinical activity related to this study has ended, but its biospecimens continue to be used in multiple translational research projects. The most recent analysis of breast cancer risk in these prospectively-monitored families indicates that mutation-negative women from these mutation-positive families have risks that are similar to those seen in the general population. To date, 20 clinical manuscripts have been published and 40 reports plus 8 manuscripts under review (in collaboration with the international consortium CIMBA) elucidating genetic modifiers of BRCA-related breast and ovarian cancer penetrance have been published. Inherited Bone Marrow Failure Syndromes (IBMFS) Study targets Fanconi anemia (FA) and related disorders which include high risk of aplastic anemia, myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and selected solid tumors. We have enrolled 1722 members from 406 IBMFS families. Major findings include quantitative estimates of FA- and dyskeratosis congenita (DC)-related cancer risks, identifying the striking similarity in cancer risks in these 2 disorders, expanding the clinical phenotype of these syndromes, and identifying very short telomeres as pathognomonic for DC. Under a Fanconi Anemia Research Foundation grant, we are writing a report on immune function in FA patients. We collaborated on development of an in vitro assay for p