title: Short- and long-term impact of receiving genetic mutation results in women at increased risk for hereditary breast cancer.
abstract: Forty-seven unaffected women from high-risk breast cancer families who had received results for hereditary breast/ovarian predisposition genes between 1 month and 5 years ago were interviewed regarding their experiences. Women responded to open-ended questions. The initial emotional turmoil reported by most was generally short lived. However, the impact of genetic testing went beyond the individual to the extended family and social context, particularly in the short-term. A common theme was the difficulty associated with divulging a result to family members, who were also adjusting to their own result. The majority of carriers reported advantages that were both physical (options for surveillance programs and prophylactic surgery) and emotional (reduced uncertainty, increased awareness of options and knowledge about risk, preparation time). Most carriers reported no change in lifestyle although some reported discovering their mutation status as a positive life-changing experience. Implications for genetic counseling and further research are discussed.
authors.affiliation: Psychological Medicine, Royal North Shore Hospital, Sydney, Australia.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Lim
authors.forename: Mariette
authors.initials: M
authors.lastname: Macluran
authors.forename: Melanie
authors.initials: M
authors.lastname: Price
authors.forename: Barbara
authors.initials: B
authors.lastname: Bennett
authors.forename: Phyllis
authors.initials: P
authors.lastname: Butow
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000523:psychology; D004252:DNA Mutational Analysis; D005195:Family Relations; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics* / Q000523:psychology; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008016:Life Change Events; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics / Q000523:psychology; D018570:Risk Assessment; D012650:Self Disclosure; D012803:Sick Role