CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda

Document Type : Research Articles


1 Biology and Medical Research Unit, Centre National de l'Energie, des Sciences et des Techniques Nucléaires, (CNESTEN), Rabat, Morocco.

2 Biology of Human Pathologies Laboratory. Faculty of Science, and Genomic of Human Pathologies Center, Mohammed V University, Rabat, Morocco.

3 Biomedical Services Department, Rwanda Biomedical Center, Kigali Rwanda, Rwanda.

4 Rwanda Military Hospital, Kigali Rwanda, Rwanda.

5 King Faysal Hospital, Kigali Rwanda, Rwanda.


Worldwide, breast cancer is the most frequent neoplasm and the second leading cause of cancer death among
females. It dominates in both developed and developing countries and represents a major public health problem. The
etiology is multifactorial and involves exogenous agents as well as endogenous factors. Although they account for only
a small fraction of the breast cancer burden, mutations in the BRCA1 and BRCA2 genes are known to confer a high
risk predisposition. Mutations in moderate/low-penetrance genes may also contribute to breast cancer risk. Previous
studies have shown that mutations in the CHEK2 gene are involved in breast cancer susceptibility due to its impact
on DNA repair processes and replication checkpoints. This study was conducted to evaluate the frequencies of three
germline mutations in CHEK2 gene (c.1100delC, R145W and I157T) in breast cancers in Rwanda. Using direct DNA
sequencing, we analyzed 41 breast cancer patients and 42 normal breast controls but could not detect any positives.
CHEK2 mutations may be a rare event in Rwandan population and may only play a minor if an role in breast cancer
predisposition among familial and sporadic cases.


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