MOLECULAR GENETICS OF HUMAN GYNECOLOGIC PATHOLOGY

人类妇科病理学的分子遗传学

• 批准号: 3855882
• 负责人: J A BOYD
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3855882
• 关键词: cancer risk; endometriosis; endometrium; gene expression; hormone related neoplasm /cancer; human tissue; molecular genetics; neoplasm /cancer diagnosis; neoplasm /cancer genetics; neoplastic cell; neoplastic transformation; oncogenes; tissue /cell preparation; tumor suppressor genes; uterus neoplasms

The goals of this project Include the analysis of molecular genetic alterations in human endometrial carcinoma and endometriosis. Using both cell lines and primary human tissue samples, the oncogene Ki-ras and the putative tumor suppressor gene DCC were shown to have a potential role in endometrial carcinoma. In addition, procedures were developed that allow for the detection of the somatic nature of these genetic alterations, by using archival, paraffin-embedded tissue specimens. This procedures will allow for the screening of large numbers of tissue samples, for which retrospective data exist concerning various risk factors, such as excessive hormonal exposure. Collaborations were established that allowed access to tumor samples from patients in "endometrial cancer families" and other hereditary conditions that potentially predispose affected individuals to endometrial and colon tumors. Analysis of these tumors is expected to yield further insight into the genetics of human endometrial cancer development. Similar strategies will be employed to evaluate a potential molecular genetic basis of endometriosis. Endometriosis is a non-malignant condition of aberrant endometrial tissue growth and is likely related to pelvic pain and infertility in 10-15% of the premenopausal U.S. population. Primary tissue samples and paraffin blocks have been obtained through collaborative arrangements with local medical institutions, and studies of gene expression in these samples are underway.

该项目的目标包括分子遗传分析 人类子宫内膜癌和子宫内膜异位症的改变。 同时使用 细胞系和原代人体组织样本，癌基因Ki-ras和 推定的肿瘤抑制基因DCC被证明在 子宫内膜癌 此外，还制定了程序， 为了检测这些遗传改变的体细胞性质， 使用存档的石蜡包埋的组织标本。 这些程序将 允许筛选大量的组织样本， 存在关于各种风险因素的回顾性数据，例如过度 荷尔蒙暴露 建立了合作关系， 来自“子宫内膜癌家族”和其他患者的肿瘤样本 遗传性疾病，可能使受影响的个人 子宫内膜和结肠肿瘤。 对这些肿瘤的分析有望 进一步深入了解人类子宫内膜癌的遗传学 发展 类似的策略将被用来评估一个潜在的 子宫内膜异位症的分子遗传学基础 子宫内膜异位症是一种非恶性 异常子宫内膜组织生长的状况，可能与 10-15%的绝经前美国人口患有盆腔疼痛和不孕症。 原代组织样本和石蜡块已通过 与当地医疗机构的合作安排，以及 这些样本中的基因表达正在进行中。