Ver artículo

Aim: To implement an accessible strategy for detection of the Mexican founder mutation NG_005905.2:g.118973_133629del, located in BRCA1, which deletes exons 9-12 (BRCA1 ex9-12del), as part of the health care setting of patients with hereditary breast and ovarian cancer (HBOC), from the National Cancer Institute (Mexico).

Material and methods: We designed a polymerase chain reaction (PCR) based method, for the targeted detection of the deletion of exons 9 through 12, of the BRCA1 gene. The method was validated with previously verified results of the deletion by multiplex ligation-dependent probe amplification assay (MLPA), or deep sequencing of the region. Finally, the technique was used for the detection of BRCA1 ex9-12del mutation in a group of 302 HBOC patients, in whom the existence of BRCA1 and BRCA2 point mutations had been ruled by pyrosequencing.

Results: The concordance of our …