A paradox: urgent BRCA genetic testing.
Diagnostic or predictive testing for germline mutations in cancer predisposition genes is inherently slow as result of both genetic counselling and mutation analysis. The overall time taken for mutation testing is not generally perceived as harmful to the individual and may be positively beneficial in order to permit full reflection on the implication of the genetic test results. However, we present three cases where we considered urgent genetic testing for the presence of mutations in th BRCA 1 and 2 genes to be necessary as the test result would have altered the subsequent clinical management of these individuals or their families.
Mitchell
G
G
Cancer Genetics Team, The Institute of Cancer Research, Sutton, UK.
Ardern-Jones
A
A
Kissin Mchir
M
M
Taylor
R
R
Eeles
R A
RA
D001943:Breast Neoplasms / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D006801:Humans; D007585:Jews; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D011237:Predictive Value of Tests