PMID: 11920643Mar 29, 2002Paper

Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis

International Journal of Cancer. Journal International Du Cancer
Marco MontagnaEmma D'Andrea

Abstract

Mutations in BRCA1 and BRCA2 genes confer a high risk of breast and ovarian cancer. As such, their identification is essential to reduce the risk of disease in healthy carriers, as well as in carriers who have already developed the disease because they are at increased risk for a second malignancy; moreover, noncarriers of BRCA1 and BRCA2 mutated families can be spared anxiety and unnecessary medical interventions. A number of problems, including large gene size, complex mutational spectra and genetic heterogeneity of the disease, however, make genetic testing labor intensive and often inconclusive. We devised a new mutation detection strategy called AGE (allele-specific gene expression) analysis that relies on the detection of a "functional effect" of the mutation at the RNA level known as "nonsense-mediated RNA decay," thus avoiding several of the problems of BRCA1 and BRCA2 genetic testing. In particular, (i) AGE analysis discriminates among the predisposing genes and identifies mutation carriers with a single RT-PCR reaction; (ii) it relies on the effect of truncating mutations, which represent the large majority of cases and thus identifies mutation carriers regardless of the specific genomic alteration; and (iii) it is sp...Continue Reading

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Citations

Feb 28, 2003·Cancer Genetics and Cytogenetics·Simona AgataMarco Montagna
Aug 7, 2009·Human Molecular Genetics·Antonis C AntoniouUNKNOWN CIMBA
Sep 24, 2010·Annals of Human Genetics·Mauro Santibanez KorefJohn Burn
Aug 10, 2007·Acta Biochimica Et Biophysica Sinica·Jingshu HuangSiwen Jiang

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