Germline mutational analysis in negative hereditary breast cancer families by MALDI-TOF mass spectrometry
Résumé
Biallelic inactivation of gene causes the rare autosomal recessive disorder Ataxia-telangiectasia (A-T). Female relatives of A-T patients have a two-fold higher risk of developing breast cancer (BC) compared with the general population. mutation carrier identification is laborious and expensive, therefore, a more rapid and directed strategy for mutation profiling is needed. We designed a case-control study to determine the prevalence of 32 known mutations causing A-T in Spanish population in 323 negative hereditary breast cancer (HBC) cases and 625 matched Spanish controls. For the detection of the 32 mutations we used the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry technique. We identified one patient carrier of the c.8264_8268delATAAG mutation. This mutation was not found in the 625 controls. These results suggest a low frequency of these 32 A-T causing mutations in the HBC cases in our population. Further case-control studies analyzing the entire coding and flanking sequences of the gene are warranted in Spanish BC patients to know its implication in BC predisposition.
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