Jill Stopfer

TL;DR: The results suggest that even in a referral clinic specializing in screening women from high-risk families, the majority of tests for BRCA1 mutations will be negative and therefore uninformative.

TL;DR: Estimating BRCA1-related cancer risks for individuals ascertained in a breast cancer risk evaluation clinic is higher than population-based estimates but lower than estimates based on families ascertained for linkage studies, which may most closely approximate those faced by BRCa1 mutation carriers identified in risk evaluation clinics.

TL;DR: Investigation of the relationship between race and the use of BRCA1/2 counseling among women with a family history of breast or ovarian cancer found racial disparities are large and do not appear to be explained by differences in risk factors for carrying a BRCa1/ 2 mutation, socioeconomic factors, risk perception, attitudes, or primary care physician recommendations.

TL;DR: A guide for primary care clinicians is presented that may be helpful in defining families as moderate or high risk, in determining individual risk in women with a family history of breast cancer based on this distinction, and for counseling women in a setting where the data necessary to design surveillance and prevention strategies are lacking.

TL;DR: These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing.