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

Worldwide, breast cancer is the most frequent neoplasm and the second leading cause of cancer death amongfemales. It dominates in both developed and developing countries and represents a major public health problem. Theetiology is multifactorial and involves exogenous agents as well as endogenous factors. Although they account for onlya small fraction of the breast cancer burden, mutations in the BRCA1 and BRCA2 genes are known to confer a highrisk predisposition. Mutations in moderate/low-penetrance genes may also contribute to breast cancer risk. Previousstudies have shown that mutations in the CHEK2 gene are involved in breast cancer susceptibility due to its impacton DNA repair processes and replication checkpoints. This study was conducted to evaluate the frequencies of threegermline mutations in CHEK2 gene (c.1100delC, R145W and I157T) in breast cancers in Rwanda. Using direct DNAsequencing, 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 cancerpredisposition among familial and sporadic cases.     

Detection of Giardia duodenalis assemblage A and B isolates by immunochromatography in stool samples from Rwandan children

We evaluated the performance of an immunochromatographic assay (ICA) in comparison with light microscopy and PCR for the detection of Giardia duodenalis in stool samples from 558 Rwandan children. The association of infection with clinical symptoms was similar for the three diagnostic tools. The ICA equally detected parasites of assemblages A and B and was more sensitive than light microscopy (50.4 versus 29.5% of PCR-positive samples considered true positive; p <0.0001). Hence, the ICA shows superior sensitivity compared with microscopy but still misses half of the G. duodenalis infections detected by PCR in this hyperendemic area.