Germline<i> ATMi> mutational analysis in<i> BRCA1/BRCA2i> negative hereditary breast cancer families by MALDI-TOF mass spectrometry

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• 作者：B. Gra帽a (19) bgrana@vhebron.net
  L. Fachal (2)
  E. Darder (3)
  J. Balma帽a (1)
  T. Ram贸n y Cajal (4)
  I. Blanco (5)
  A. Torres (6)
  C. L谩zaro (5)
  O. Diez (7)
  C. Alonso (4)
  M. Santamari帽a (8)
  A. Velasco (3)
  A. Teul茅 (5)
  A. Lasa (4)
  A. Blanco (2)
  A. Izquierdo (3)
  J. Borr脿s (6)
  S. Guti茅rrez-Enr铆quez (7)
  A. Vega (2)
  J. Brunet (3)
• 关键词：Hereditary breast cancer – ; Ataxia ; telangiectasia – ; ATM – ; BRCA1 – ; BRCA2 – ; Case– ; control study – ; MALDI ; TOF mass spectrometry
• 刊名：Breast Cancer Research and Treatment
• 出版时间：July 2011
• 出版年：2011
• 期刊代码：11_01676806
• 类别：ch
• 卷：128
• 期：2
• 页码：573-579
• 数据来源：sp

摘要

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 known ATM mutations 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.