Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care
Yale University
Summary
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.
Description
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 wi…
Eligibility
- Age range
- 13+ years
- Sex
- Female
- Healthy volunteers
- No
Inclusion Criteria: * females * 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 Exclusion Criteria: * 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
Location
- Yale UniversityNew Haven, Connecticut