title: Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message.
abstract: The identification of an increasing number of variants of uncertain clinical significance (VUCS) in genetic testing for hereditary breast cancer poses serious problems for genetic counseling, because no data are available about the psychosocial impact of discussing such an unclear risk message. The current study is the first to present data on how test applicants actually understand and cope with such a result if communicated by a geneticist. We compared 10 women who received a VUCS result with 34 women who carried the deleterious mutation, 37 women who did not carry the deleterious mutation or 'true negatives,' and 160 women who received a so-called inconclusive result before and after test disclosure. Women, with whom a VUCS result was discussed, reported quite a high level of comprehension of the result. In addition, compared with the pretest measures, they did not report a higher level of perceived risk (p = 0.58) and even reported a decrease in breast cancer distress (p = 0.03). They were very comparable to women who received an inconclusive result on all post-disclosure measures. Our results suggest that discussing a VUCS result in genetic counseling does not give rise for concern.
authors.affiliation: Department of Medical Decision-Making, Leiden University Medical Center, Leiden, The Netherlands. dijk@lumc.nl
authors.forename: Sandra
authors.initials: S
authors.lastname: van Dijk
authors.forename: Christi J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: Catharina E
authors.initials: CE
authors.lastname: Jacobi
authors.forename: Geraldine R
authors.initials: GR
authors.lastname: Vink
authors.forename: Aad
authors.initials: A
authors.lastname: Tibben
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Wilma
authors.initials: W
authors.lastname: Otten
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein