Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families

Henry T. Lynch, Carrie Snyder, Jane F. Lynch, Peggy Karatoprakli, Abdon Trowonou, Kelly Metcalfe, Steven A. Narod, Gordon Gong

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)91-97
Number of pages7
JournalCancer Genetics and Cytogenetics
Issue number2
StatePublished - Mar 2006

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research


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