title: Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families.
abstract: 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.
authors.affiliation: Department of Preventive Medicine and Public Health, Creighton University, 2500 California Plaza, Omaha, Nebraska 68178, USA. htlynch@creighton.edu
authors.forename: Henry T
authors.initials: HT
authors.lastname: Lynch
authors.forename: Carrie
authors.initials: C
authors.lastname: Snyder
authors.forename: Jane F
authors.initials: JF
authors.lastname: Lynch
authors.forename: Peggy
authors.initials: P
authors.lastname: Karatoprakli
authors.forename: Abdon
authors.initials: A
authors.lastname: Trowonou
authors.forename: Kelly
authors.initials: K
authors.lastname: Metcalfe
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.forename: Gordon
authors.initials: G
authors.lastname: Gong
mesh_terms: 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