Low Prevalence of CHEK2 Gene Mutations in Malaysian Breast Cancer Patients

Strategic Insights -

Researchers have identified that CHEK2 gene mutations are rare among high-risk breast cancer patients in Malaysia, suggesting a minor contributing role in breast carcinogenesis among the Malaysian population. The study analyzed 59 high-risk breast cancer patients who tested negative for BRCA1/2 germline mutations and found two missense mutations in the CHEK2 gene. Further screening of these mutations in case-control cohorts unveiled a low prevalence of CHEK2 mutations among Malaysian breast cancer patients.

Key Takeaways:

  • CHEK2 is a protein kinase involved in cell-cycle checkpoint control after DNA damage, and germline mutations in the CHEK2 gene have been associated with an increased risk of breast cancer.
  • The CHEK2 gene mutations were identified in two unrelated patients among 59 high-risk breast cancer patients in Malaysia.
  • The missense mutations, c.480A G (p.I160M) and c.538C T (p.R180C), were found in 2/172 (1.1%) Indian cases, 2/526 (0.38%) Chinese cases, and 2/180 (1.1%) Malay cases.
  • The results of the study suggest that CHEK2 mutations play a minor contributing role in breast carcinogenesis among the Malaysian population.
  • The study highlights the importance of genetic screening for breast cancer risk in high-risk populations.
  • The prevalence of CHEK2 gene mutations in Malaysian breast cancer patients is lower than expected, indicating a need for further research to understand the role of CHEK2 mutations in breast cancer development.

Statistics:

  • 59 high-risk breast cancer patients were screened for CHEK2 gene mutations in the study.
  • 2 missense mutations, c.480A G (p.I160M) and c.538C T (p.R180C), were identified among the 59 patients.
  • 878 unselected invasive breast cancer patients and 270 healthy individuals were screened for the missense mutations in case-control cohorts.
  • 2/172 (1.1%) Indian cases and 1/90 (1.1%) Indian control, variant p.I160M was found among Indian cases.
  • 2/526 (0.38%) Chinese cases and 0/90 Chinese control, variant p.R180C was found among Chinese cases.
  • 2/180 (1.1%) Malay cases and 1/90 (1.1%) Malay control, variant p.R180C was found among Malay cases.

Sources:

  • Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia. Plos One, 2015;10(1):e0117104. (Public Library of Science - www.plos.org; Plos One - www.plosone.org)
  • National University, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Cheras, Kuala Lumpur, Malaysia.