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This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.
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| Measure | Description | Time Frame |
|---|---|---|
| Change in Breast Cancer Risk Management Recommendations | Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers. | First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit. |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.
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| Name | Affiliation | Role |
|---|---|---|
| Brigette Tippin-Davis, PhD | Ambry Genetics | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Providence Roy and Patricia Disney Family Cancer Center | Burbank | California | 91505 | United States | ||
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D000096442 | Genetic Risk Score |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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Residual specimen may be maintained for an indefinite period of time at Ambry Genetics and be available for future studies as provided for in the consent document. Future studies on identifiable specimens or data will require review by an IRB or ethics committee.
| St Joseph Hospital of Orange |
| Orange |
| California |
| 92868 |
| United States |
| Edwards Comprehensive Cancer Center | Huntington | West Virginia | 25701 | United States |
| D017437 |
| Skin and Connective Tissue Diseases |
| D020022 | Genetic Predisposition to Disease |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |