Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
Por:
Sanz, J, Cajal, TY, Torres, A, Darder, E, Gadea, N, Velasco, A, Fortuny, D, Lopez, C, Fisas, D, Brunet, J, Alonso, MC, Balmana, J
Publicada:
1 sep 2010
Resumen:
Identifying a BRCA mutation among families with hereditary breast and ovarian cancer enables distinguishing those who may benefit from a specific medical management. This study aimed to evaluate the uptake of predictive testing among close relatives of a proband in Spanish families with a BRCA1 or BRCA2 mutation, and to determine the associated demographic and clinical predictors. A retrospective cohort of families undergoing clinical genetic testing at four university hospitals in northeastern Spain was considered. From 108 unrelated BRCA1/2 families, 765 close relatives of probands were analyzed. Sixty percent of the first-degree and 28% of the second-degree relatives underwent predictive testing within a median time of 2 and 6 months, respectively, since the mutation disclosure to the proband. Relatives undergoing genetic testing were more likely to be female, first-degree, and belong to a family with a proband who had a high educational level. Relatives were also more likely to have offspring, a previous cancer diagnosis, and to be aged between 30 and 64 years. Among second-degree relatives, having a first-degree relative with cancer was highly correlated with uptake. In conclusion, uptake of BRCA1/2 predictive testing among close relatives was notably high and within a short period of time after disclosure of the mutation to the proband. Being female, a high educational level of the proband, and having a close relative with cancer were associated with uptake among relatives. Further studies are warranted to determine whether information is disseminated properly by probands and to learn about the reasons for those not undergoing testing.
Filiaciones:
Sanz, J:
Hosp Santa Cruz & St Pau, Dept Med Oncol, Canc Genet Counselling Unit, Barcelona 08025, Spain
Hosp Univ St Joan, Clin Genet Unit, Dept Med Oncol, Reus, Spain
Cajal, TY:
Hosp Santa Cruz & St Pau, Dept Med Oncol, Canc Genet Counselling Unit, Barcelona 08025, Spain
Torres, A:
Hosp Univ St Joan, Clin Genet Unit, Dept Med Oncol, Reus, Spain
Darder, E:
Hosp Josep Trueta, Canc Genet Counselling Program, Catalan Inst Oncol, Girona, Spain
IdIBGi, Girona Biomed Res Inst, Girona, Spain
Gadea, N:
Hosp Univ Valle Hebron, Dept Med Oncol, Barcelona, Spain
Velasco, A:
Hosp Josep Trueta, Canc Genet Counselling Program, Catalan Inst Oncol, Girona, Spain
IdIBGi, Girona Biomed Res Inst, Girona, Spain
Fortuny, D:
Hosp Univ Valle Hebron, Dept Med Oncol, Barcelona, Spain
Lopez, C:
Hosp Santa Cruz & St Pau, Dept Med Oncol, Canc Genet Counselling Unit, Barcelona 08025, Spain
Fisas, D:
Hosp Santa Cruz & St Pau, Dept Med Oncol, Canc Genet Counselling Unit, Barcelona 08025, Spain
Brunet, J:
Hosp Josep Trueta, Canc Genet Counselling Program, Catalan Inst Oncol, Girona, Spain
IdIBGi, Girona Biomed Res Inst, Girona, Spain
Alonso, MC:
Hosp Santa Cruz & St Pau, Dept Med Oncol, Canc Genet Counselling Unit, Barcelona 08025, Spain
Balmana, J:
Hosp Univ Valle Hebron, Dept Med Oncol, Barcelona, Spain
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