Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 2
- 主要终点
- Prevalence of ovarian cancer in women with CUA's compared to women without CUA's
研究概览
简要总结
The purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females with CUAs. The investigator will also investigate any environmental and genetic factors that may be responsible for causing CUAs.
详细描述
Aim 1: To identify female subjects diagnosed with a Congenital Uterine Anomaly (CUA) receiving care at Yale New Haven Health.
Aim 2: Identify (i) the prevalence of renal, breast, ovarian, uterine and vaginal cancers associated with CUAs, and (ii) the association of environmental factors, via a survey obtained by phone, email or interview.
Aim 3: Conduct genetic evaluation of the index subjects, parents, sister(s) (as feasible), and female offspring to identify potential causes and patterns of inheritance using whole exome sequencing (WES) and microarray.
Following informed consent, blood will be collected for genetic evaluation. DNA will be extracted from EDTA-blood and analyzed using an integrated approach of microarray for copy number variations (CNV), and Whole Exome Sequencing (WES) for Single Nucleotide Variation (SNV).
Undertaking review of the medical records will identify the cohort of patients we wish to survey to then ascertain further information regarding their CUA diagnosis and other related details. The information to be elicited from the survey are outlined in the attached survey questions. Key associations we seek to investigate include (1) the type and prevalence of renal, breast, ovarian, uterine and vaginal cancers among patients with Mullerian Anomaly, and (2) identifying potential in-utero exposure to particular environmental agents in patients with CUAs.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 13 Years 至 —（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •age: 13 or older
- •encounters limited to: Yale New Haven Hospital, Bridgeport Hospital, Greenwich Hospital and Lawrence+ Memorial Hospital.
- •diagnosis of any variation of CUA
排除标准
- •who will decline to participate in a study upon contact
- •non-English speaking except Spanish speaking
- •unable to participate in consent or assent process due to mental disability
结局指标
主要结局
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's
时间窗: 6-months
Prevalence of ovarian cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of cervical cancer in women with CUA's compared to women without CUA's
时间窗: 6 month
Prevalence of cervical cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of breast cancer in women with CUA's compared to women without CUA's
时间窗: 6-months
Prevalence of breast cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of uterine cancer in women with CUA's compared to women without CUA's
时间窗: 6-months
Prevalence of uterine cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's
时间窗: 6 month
Prevalence of vaginal cancer in women with CUA's compared to women without CUA's will be measured
Prevalence of renal cancer in women with CUA's compared to women without CUA's
时间窗: 6 month
Prevalence of renal cancer in women with CUA's compared to women without CUA's will be measured
次要结局
- Whole exome sequencing (WES) and microarray(24 months)