Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients

Fam Cancer. 2005;4(2):115-9. doi: 10.1007/s10689-004-7991-2.


Introduction: Carriers of a hereditary mutation in BRCA are at high risk for breast and ovarian cancer. The first person from a family known to carry the mutation, the index person, has to share genetic information with relatives. This study is aimed at determining the number of relatives tested for a BRCA mutation, and the exploration of facilitating and debilitating factors in the transmission of genetic information from index patient to relatives.

Methods: The study includes 50 female index patients, with a germline mutation in either BRCA1 or BRCA2.

Results: The percentage of first- and second-degree relatives tested for the BRCA-mutation was 36%. Uptake levels for predictive BRCA-mutation testing could not be explained by demographic or counseling characteristics, nor by cancer-related history. In 14 families, fewer than 20% of first- and second-degree relatives were tested. These families were compared with the other families. In retrospect, the index patients of families with few BRCA-mutation tests more often asked for support in the communication with family members (62% vs. 27%). A psychosocial worker had been absent more often during counseling (39% vs. 9%). Emotional factors debilitating the information transmission were only reported by index patients from families with few BRCA-mutation tests (18% vs. 0%), who also informed their parents less often (21% vs. 67%) and did so less often personally (38% vs. 71%).

Conclusion: Uptake of predictive BRCA-mutation testing by first- and second-degree relatives is low. Emotional and behavioral factors of index patients are related to this uptake.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / psychology*
  • Child
  • Child, Preschool
  • Communication*
  • Emotions*
  • Family Relations
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / psychology*
  • Pedigree
  • Retrospective Studies