Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients.
OBJECTIVE
Approximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation.


METHODS
Participants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment.


RESULTS
Forty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy.


CONCLUSIONS
This study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation.
Schwartz
Marc D
MD
Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20007, USA. schwartm@georgetown.edu
Lerman
Caryn
C
Brogan
Barbara
B
Peshkin
Beth N
BN
Halbert
Chanita Hughes
CH
DeMarco
Tiffani
T
Lawrence
William
W
Main
David
D
Finch
Clinton
C
Magnant
Colette
C
Pennanen
Marie
M
Tsangaris
Theodore
T
Willey
Shawna
S
Isaacs
Claudine
C
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology / Q000523:psychology* / Q000601:surgery; D003657:Decision Making; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008408:Mastectomy / Q000379:methods*; D008875:Middle Aged; D011446:Prospective Studies