Publications by authors named "Philamer Atienza"
A two-stage approach to genetic risk assessment in primary care.
Breast Cancer Res Treat
January 2016
Article Synopsis
- Genetic risk prediction models like BRCAPRO help identify potential BRCA1 and BRCA2 mutation carriers but require extensive family histories, making them impractical for primary care.
- A new two-stage approach simplifies this process by first using a limited assessment in primary care, and if high risk is identified, a more detailed analysis is conducted using the full BRCAPRO for genetic counseling.
- Evaluation of this approach shows minimal loss in accuracy and similar identification rates of mutation carriers, allowing for practical large-scale genetic risk assessments in primary care settings.
Article Synopsis
- Health care providers need easier ways to assess genetic risks for breast and ovarian cancers, and simplified versions of the BRCAPRO model could help.
- Four simplified models are explored, each requiring less detailed family history information: BRCAPROLYTE, BRCAPROLYTE-Plus, BRCAPROLYTE-Simple, and BRCAPRO-1Degree.
- The study compares these models using data from 2,713 patients, finding that while BRCAPROLYTE is less accurate due to ignoring unaffected relatives, BRCAPROLYTE-Plus and BRCAPROLYTE-Simple offer better calibration and have only a modest decrease in discrimination compared to the full BRCAPRO model.