title: Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation.
abstract: Most women from BRCA1/2 mutation-positive families who did not inherit the familial mutation have breast and ovarian cancer risks similar to those of women of the same age in the general population. However, recent studies suggest that some of these noncarriers may exhibit screening practices that may be considered as excessive compared to general population screening guidelines. Reasons for such tendencies remain largely unknown. This study aims to better understand how the implications of a noncarrier status are explained to these women and how their own realization of this status affects their screening behaviors.
  
  
  
  A qualitative study was conducted with five focus groups (n = 28) in Quebec City and Montreal, Canada.
  
  
  
  Thematic analysis of the discussions highlighted four major themes: (i) acquiring a noncarrier identity takes place progressively; (ii) noncarriers show a range of opinions about screening; (iii) noncarriers have mixed feelings about the follow-up by their physicians and gynecologists; and (iv) noncarriers need more information in a context where genetics progresses ever more rapidly.
  
  
  
  Our results provide novel insights regarding the physician-patient interaction and the organizational aspects of the health-care system that may significantly impact the cancer screening practices of BRCA1/2 noncarriers.Genet Med 18 6, 627-634.
authors.affiliation: Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Pelletier
authors.affiliation: Department of Medical Genetics, Jewish General Hospital, Montreal, Quebec, Canada.
authors.forename: Nora
authors.initials: N
authors.lastname: Wong
authors.affiliation: Service de Médecine Génique, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
authors.forename: Zaki
authors.initials: Z
authors.lastname: El Haffaf
authors.affiliation: Department of Medical Genetics, Jewish General Hospital, Montreal, Quebec, Canada.|Lady Davis Institute of the Jewish General Hospital, Montreal, Quebec, Canada.|Departments of Oncology, Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.affiliation: Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.|Centre des Maladies du Sein Deschênes-Fabia, CHU de Québec, Université Laval, Quebec City, Quebec, Canada.
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Chiquette
authors.affiliation: Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
authors.forename: Pavel
authors.initials: P
authors.lastname: Hamet
authors.affiliation: Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.|Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.
authors.forename: Jacques
authors.initials: J
authors.lastname: Simard
authors.affiliation: Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.|Centre des Maladies du Sein Deschênes-Fabia, CHU de Québec, Université Laval, Quebec City, Quebec, Canada.|Faculté de Pharmacie, Université Laval, Quebec City, Quebec, Canada.
authors.forename: Michel
authors.initials: M
authors.lastname: Dorval
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000523:psychology; D002170:Canada; D055088:Early Detection of Cancer; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D018578:Hospital-Physician Relations; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000523:psychology; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human