Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : B. Gran˜a L. Fachal E. Darder J. Balman˜a T. Ramo´n y Cajal I. Blanco A. Torres C. La´zaro O. Diez C. Alonso M. Santamarin˜a A.
- چاپ و سال / کشور: 2011
Description
Biallelic inactivation of ATM 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. ATM mutation carrier identification is laborious and expensive, therefore, a more rapid and directed strategy for ATM mutation profiling is needed. We designed a case–control study to determine the prevalence of 32 knownATMmutations causing A-T in Spanish population in 323 BRCA1/BRCA2 negative hereditary breast cancer (HBC) cases and 625 matched Spanish controls. For the detection of the 32 ATM 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 ATM 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 ATM gene are warranted in Spanish BC patients to know its implication in BC predisposition.
Breast Cancer Res Treat (2011) 128:573–579 DOI 10.1007/s10549-011-1462-x Received: 14 February 2011 / Accepted: 15 March 2011 / Published online: 29 March 2011
