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Article Dans Une Revue European Journal of Human Genetics Année : 2011

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations

J. Julian-Reynier
  • Fonction : Auteur
J. Mancini
E. Mouret-Fourme
  • Fonction : Auteur
M. Gauthier-Villars
  • Fonction : Auteur
P. Berthet
  • Fonction : Auteur
J.P. Fricker
  • Fonction : Auteur
O. Caron
  • Fonction : Auteur
E. Luporsi
  • Fonction : Auteur
C. Nogues

Résumé

In a French national cohort of unaffected females carriers/non-carriers of a BRCA1/2 mutation, long-term preventive strategies and breast/ovarian cancer risk perceptions were followed up to 5 years after test result disclosure, using self-administered questionnaires. Response rate was 74%. Carriers (N=101) were younger (average age +/- SD=37 +/- 10) than non-carriers (N=145; 42 +/- 12). There were four management strategies that comprised 88% of the decisions made by the unaffected carriers: 50% opted for breast surveillance alone, based on either magnetic resonance imaging (MRI) and other imaging (31%) or mammography alone (19%); 38% opted for either risk reducing salpingo-oophorectomy (RRSO) and breast surveillance, based on MRI and other imaging (28%) or mammography alone (10%). The other three strategies were: risk reducing mastectomy (RRM) and RRSO (5%), RRM alone (2%) and neither RRM/RRSO nor surveillance (6%). The results obtained for various age groups are presented here. Non-carriers often opted for screening despite their low cancer risk. Result disclosure increased carriers' short-term high breast/ovarian cancer risk perceptions (P <= 0.02) and decreased non-carriers' short-and long-term perceptions (P < 0.001). During follow-up, high breast cancer risk perceptions increased with time among those who had no RRM and decreased in the opposite case; high ovarian cancer risk perceptions increased further with time among those who had no RRSO and decreased in the opposite case; RRSO did not affect breast cancer risk perceptions. Informed decision-making involves letting women know whether opting for RRSO and breast MRI surveillance is as effective in terms of survival as RRM and RRSO.

Domaines

Autre [q-bio.OT]

Dates et versions

hal-00697966 , version 1 (16-05-2012)

Identifiants

Citer

J. Julian-Reynier, J. Mancini, E. Mouret-Fourme, M. Gauthier-Villars, Valérie Bonadona, et al.. Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations. European Journal of Human Genetics, 2011, 19, pp.500-506. ⟨10.1038/ejhg.2010.241⟩. ⟨hal-00697966⟩
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