Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian Cancer
研究概览
详细说明
Hereditary breast/ovarian cancer syndrome is associated with mutations in tumor suppressor BRCA1 and BRCA2 genes. Products of these genes play an important role in the repair of DNA double-strand breaks. Mutations in BRCA1 and BRCA2 genes could impair DNA repair. In resting or G1 cells, where the de novo synthesis of DNA precursors is absent, the salvage pathway is the sole provider of deoxyribonucleotides to be used in DNA repair. For this process a sufficient supply of deoxynucleotides and activity of Thymidine Kinase 1 are essential. TK1 is an important component of adaptive response of cells to DNA damage. Mutations in genes directly engaged in the DNA repair process could lead to the accumulation of DNA damage and in turn cause an adaptive cell reaction manifesting as permanently increased Thymidine Kinase 1 activity.
A recently developed new high-sensitive assay DiviTum® allows to investigate the contribution of this enzyme to DNA repair processes and to make a comparison of Thymidine kinase 1 activity in women with normal and impared DNA repair system.
研究类型
注册 (预期的)
联系人和位置
学习地点
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Jerusalem、以色列、91120
- 招聘中
- Hadassah Medical Organization
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接触:
- Arik Tzukert, DMD
- 电话号码:00 972 2 6776095
- 邮箱:arik@hadassah.org.il
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副研究员:
- Benjamin Nisman, PhD
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参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- women from family with more than two breast cancer cases and one or more cases of ovarian cancer diagnosed at any age;
- women from family with more than three breast cancer cases diagnosed before the age 50;
- women from family withsister pair in which one of the following combinations was diagnosed before the age of 50: two breast cancers, two ovarian cancers, or a breast and ovarian cancer.
Exclusion Criteria:•
- pregnant women;
- women with generalized CMV and HZV infections;
- women with severe B12 deficiency and megaloblastic anaemia;
- women with severe rheumatoid arthritis.
学习计划
研究是如何设计的?
设计细节
队列和干预
团体/队列 |
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1
With BRCA1 or BRCA2 mutations
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2
Without BRCA1 or BRCA2 mutations
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合作者和调查者
出版物和有用的链接
研究记录日期
研究主要日期
学习开始
初级完成 (预期的)
研究完成 (预期的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
更多信息
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