title: Clinical characteristics affect the impact of an uninformative DNA test result: the course of worry and distress experienced by women who apply for genetic testing for breast cancer.
abstract: OBJECTIVE
  DNA mutation testing for breast cancer usually yields an uninformative result, which is a negative result in the absence of a known BRCA mutation within the family. However, few data are available on the psychological impact of this result. Moreover, the clinical heterogeneity within this group has not yet been considered. This study provides prospective data about the course of cancer-specific worry and distress for different groups of test applicants.
  
  
  METHODS
  All DNA test applicants (n = 238) completed three questionnaires: before and 1 and 7 months after disclosure of a DNA mutation test. With repeated-measures analysis of variance, differences were assessed between BRCA1/2-positive women (n = 42), BRCA1/2-true-negative women (n = 43), and women with an uninformative test result (n = 153).
  
  
  RESULTS
  On the group level, women with an uninformative result seemed to be reassured after disclosure (P < .001), but to a lesser extent than those women who received a true-negative result. However, not all women with an uninformative result reacted similarly: higher levels of worry and distress could be explained by relatively straightforward clinical variables, namely a personal history of cancer (P < or = .001) and a higher pedigree-based risk (P < or = .005). Furthermore, these clinical variables determined whether these women were either comparable to women who received a true-negative result or to BRCA mutation carriers.
  
  
  CONCLUSIONS
  Women with an uninformative result form a heterogeneous group of test applicants. The subpopulation of those with both a personal history of cancer and a relatively high pedigree-based risk expressed the highest levels of worry 7 months after DNA testing.
authors.affiliation: Department of Medical Decision-making and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. dijk@lumc.nl
authors.forename: Sandra
authors.initials: S
authors.lastname: van Dijk
authors.forename: Daniëlle R M
authors.initials: DR
authors.lastname: Timmermans
authors.forename: Hanne
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: Aad
authors.initials: A
authors.lastname: Tibben
authors.forename: Christi J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: Wilma
authors.initials: W
authors.lastname: Otten
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology*; D004273:DNA, Neoplasm / Q000302:isolation & purification*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012307:Risk Factors; D013315:Stress, Psychological / Q000209:etiology*
chemical_list: D004273:DNA, Neoplasm