Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.
BRCA1 and BRCA2 genes have a high allelic heterogeneity. The knowledge of the most prevalent mutations and their geographical distribution can be useful in designing efficient mutational screening. In the present work we reviewed the frequency of BRCA1 and BRCA2 recurrent mutations in seven geographic areas of Spain to evaluate the effects of their heterogeneous prevalence in genetic testing. We observed that prevalence of recurrent mutations vary according to the geographical origin of the studied families, and accounted for a variable number of positive families depending on the series. Therefore, more upcoming data of larger Spanish population cohorts collected from different areas in the country will allow to design a wider comprehensive panel of recurrent mutations that may be applicable worldwide to families with Hispanic origin.
Diez
Orland
O
Oncogenetics Laboratory, Vall d'Hebron University Hospital, Barcelona, Spain. Odiez@vhebron.net
Gutiérrez-Enríquez
Sara
S
Balmaña
Judith
J
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1 / Q000502:physiology*; D024522:Genes, BRCA2 / Q000502:physiology*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D015995:Prevalence; D013030:Spain / Q000453:epidemiology
D019313:BRCA1 Protein; D024682:BRCA2 Protein