ATM mutations for surgeons
作者: Sara A. MansfieldRobert PilarskiDoreen M. Agnese
作者单位: 1The Ohio State University College of Medicine
刊名: Familial Cancer, 2017, Vol.16 (3), pp.407-410
来源数据库: Springer Journal
DOI: 10.1007/s10689-016-9959-4
关键词: Ataxia-telangiectasia mutationBreast cancerGenetic screening
英文摘要: The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.
原始语种摘要: The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:1.935 (2012)

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关键词翻译
关键词翻译
  • telangiectasia 毛细管扩张
  • breast 胸部
  • ATM Asynchronous Transmission Mode
  • developing 显影
  • involved 涉及
  • ataxia 运动失调
  • mutation 变种
  • cancer 癌症
  • identification 辨认
  • heterozygous 杂合的