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Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients

Ziguo Yang1, Tao Ouyang1, Jinfeng Li1

  • 1Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Breast Center, Peking University Cancer Hospital & Institute, 100142, Beijing, People's Republic of China.

Breast Cancer Research and Treatment
|January 5, 2019
PubMed
Abstract

Insights

The ataxia telangiectasia-mutated (ATM) gene is linked to breast cancer risk. ATM mutation carriers often have a family cancer history and are more prone to developing ER/PR-positive or lymph node-positive breast cancer.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The ataxia telangiectasia-mutated (ATM) gene is recognized as a moderate susceptibility gene for breast cancer.
  • Limited information exists regarding the specific breast cancer phenotypes associated with ATM gene mutations.

Purpose of the Study:

  • To investigate the spectrum and clinical characteristics of ATM germline mutations in Chinese breast cancer patients.
  • To determine the prevalence and associated clinical features of ATM mutations in a BRCA1/2-negative cohort.

Main Methods:

  • A multi-gene panel was utilized to screen 7657 BRCA1/2-negative breast cancer patients for ATM germline mutations.
  • Deleterious mutations were confirmed using independent polymerase chain reaction (PCR)-Sanger sequencing.

Main Results:

  • Thirty ATM mutation carriers were identified, yielding an ATM mutation rate of 0.4% (30/7,657).
  • The majority of mutations were nonsense or frameshift (90.3%); 61.3% were novel.
  • ATM mutation carriers showed a higher likelihood of family cancer history and developed ER-positive, PR-positive, and lymph node-positive breast cancer.

Conclusions:

  • ATM mutations occur in approximately 0.4% of Chinese BRCA1/2-negative breast cancer patients.
  • ATM mutation carriers are predisposed to a family history of cancer and specific breast cancer subtypes (ER/PR-positive, lymph node-positive).
Keywords:
ATM geneBreast cancerChinese populationGermline mutation

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