title: Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.
abstract: OBJECTIVE
  Women carrying BRCA1/BRCA2 germ-line mutations have an increased risk of developing breast/ovarian cancer. To minimize this risk, international guidelines recommend lifelong surveillance and preventive measures. This study explores the challenges that unaffected women genetically predisposed to breast/ovarian cancer face in managing their risk over time and the psychosocial processes behind these challenges.
  
  
  METHODS
  Between 2011 and 2013, biographical qualitative interviews were conducted in Switzerland with 32 unaffected French- and Italian-speaking women carrying BRCA1/BRCA2 mutations. Their mutation status had been known for at least 3 years (mean, 6 years). Data were analyzed through constant comparative analysis using software for qualitative analysis.
  
  
  RESULTS
  From the time these women received their positive genetic test results, they were encouraged to follow medical guidelines. Meanwhile, their adherence to these guidelines was constantly questioned by their social and medical environments. As a result of these contradictory pressures, BRCA1/BRCA2 mutation carriers experienced a sense of disorientation about the most appropriate way of dealing with genetic risk.
  
  
  CONCLUSIONS
  Given the contradictory attitudes of health-care professionals in caring for unaffected BRCA1/BRCA2 mutation carriers, there is an urgent need to educate physicians in dealing with genetically at-risk women and to promote a shared representation of this condition among them.Genet Med 17 9, 726-732.
authors.affiliation: Department of Sociology, University of Geneva, Geneva, Switzerland.
authors.forename: Maria
authors.identifier: http://orcid.org/0000-0003-4197-8913
authors.initials: M
authors.lastname: Caiata-Zufferey
authors.affiliation: Oncogenetics and Breast Unit, Institute of Oncology of Southern Switzerland, Viganello, Switzerland.
authors.forename: Olivia
authors.identifier: http://orcid.org/0000-0001-9739-6299
authors.initials: O
authors.lastname: Pagani
authors.affiliation: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Viviane
authors.initials: V
authors.lastname: Cina
authors.affiliation: Division of Medical Genetics, Institut Central, Hôpital du Valais, Sion, Switzerland.
authors.forename: Véronique
authors.initials: V
authors.lastname: Membrez
authors.affiliation: Oncogenetics and Breast Unit, Institute of Oncology of Southern Switzerland, Viganello, Switzerland.
authors.forename: Monica
authors.initials: M
authors.lastname: Taborelli
authors.affiliation: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.affiliation: Oncogenetics and Cancer Prevention Unit, Division of Oncology, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: Anne
authors.initials: A
authors.lastname: Murphy
authors.affiliation: Service of Oncology, Hôpital du Jura-Delémont, Delémont, Switzerland.
authors.forename: Christian
authors.initials: C
authors.lastname: Monnerat
authors.affiliation: Division of Medical Genetics, Institut Central, Hôpital du Valais, Sion, Switzerland.|Oncogenetics and Cancer Prevention Unit, Division of Oncology, University Hospitals of Geneva, Geneva, Switzerland.|Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: Pierre O
authors.initials: PO
authors.lastname: Chappuis
mesh_terms: D000328:Adult; D001291:Attitude of Health Personnel; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control* / Q000523:psychology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing; D018095:Germ-Line Mutation; D019983:Guideline Adherence; D006801:Humans; D007406:Interview, Psychological; D008137:Longitudinal Studies; D008875:Middle Aged; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human