Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families.
Limited attention has been given to the impact of BRCA mutation disclosure on participants' psychological reaction and cancer control compliance. We asked women (290 mutation-positive, 370 mutation-negative) from 84 hereditary breast-ovarian cancer (HBOC) families with known deleterious BRCA mutations to participate in an evaluation regarding cancer prevention recommendations before and after BRCA mutation disclosure. Both men and women (n = 780) were invited to complete a questionnaire to evaluate their psychological response to BRCA mutation disclosure. Before BRCA testing, 23.0% (152 of 660) of these women underwent prophylactic bilateral mastectomy, oophorectomy, or both; of these, 53% (80 of 152) were subsequently found to be mutation negative. After mutation disclosure, 52.9% (110 of 208) of mutation carriers and 0% (0 of 203) of noncarriers underwent prophylactic surgeries. These changes were statistically significant compared with before disclosure (P < 0.0001). The rate of transvaginal ovarian ultrasound screening was significantly increased in mutation carriers (P < 0.015) and marginally decreased in noncarriers (P = 0.063) post disclosure. Psychologically, compared with noncarriers without cancer, a significantly higher percentage of carriers, regardless of their cancer status, felt guilt about passing a mutation to their children, worried about developing additional cancer or their children developing cancer, and were concerned about health insurance discrimination. Despite these psychological consequences, carriers and noncarriers reported a positive attitude toward genetic testing.
Lynch
Henry T
HT
Department of Preventive Medicine and Public Health, Creighton University, 2500 California Plaza, Omaha, Nebraska 68178, USA. htlynch@creighton.edu
Snyder
Carrie
C
Lynch
Jane F
JF
Karatoprakli
Peggy
P
Trowonou
Abdon
A
Metcalfe
Kelly
K
Narod
Steven A
SA
Gong
Gordon
G
D001943:Breast Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D030881:Disclosure; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D006801:Humans; D008327:Mammography / Q000706:statistics & numerical data; D009154:Mutation; D010051:Ovarian Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D010349:Patient Compliance; D014463:Ultrasonography / Q000706:statistics & numerical data