Article
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
Breast cancer research and treatment - 1 Jul 2011
Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T, Blanco I, Torres A, Lázaro C, Diez O, Alonso C, Santamariña M, Velasco A, Teulé A, Lasa A, Blanco A, Izquierdo A, Borràs J, Gutiérrez-Enríquez S, Vega A, Brunet J
Abstract excerpt
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...
Topics
- Ataxia Telangiectasia Mutated Proteins
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- Case-Control Studies
- Cell Cycle Proteins
- DNA
- DNA Mutational Analysis
- DNA-Binding Proteins