Genetic Susceptibility to Breast Cancer: a New, More Accurate Diagnostic Test for Mutation Screening

PR Newswire

PARIS, May 29, 2012 /PRNewswire/ --
A diagnostic test using molecular combing to screen for the genetic susceptibility to breast and ovarian cancers due to the BRCA1 and BRCA2 genes, has confirmed new complex structural mutations on both these genes. The test under development could be used as an essential complementary tool to current screening methods, according to the results of a study published in the June issue of Human Mutation (1).
"The effectiveness of current screening techniques remains limited due to the very high proportion of repetitive and difficult-to-sequence genome sequences in the BRCA1 and BRCA2 genes.There is therefore a real need for alternative technologies," explains Dr Maurizio Ceppi, project manager at Genomic Vision and co-author of the study.
Hereditary mutations on one of the two BRCA genes (for BReast CA 1 and 2) mean the risk of developing breast cancer is ten to 20 times higher and is directly responsible for 5 to 10% of cases noted each year. These mutations include small alterations but also complex genome rearrangements that are far more difficult to characterize, even using the most effective technologies, such as Next-Generation Sequencing.