title: Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients.
abstract: BACKGROUND
  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%).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands. K.Landsbergen@antrg.umcn.nl
authors.forename: Karin
authors.initials: K
authors.lastname: Landsbergen
authors.forename: Chris
authors.initials: C
authors.lastname: Verhaak
authors.forename: Floor
authors.initials: F
authors.lastname: Kraaimaat
authors.forename: Nicoline
authors.initials: N
authors.lastname: Hoogerbrugge
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D003142:Communication; D004644:Emotions; D005195:Family Relations; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000523:psychology*; D010375:Pedigree; D012189:Retrospective Studies