%0 Journal Article %T CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda %J Asian Pacific Journal of Cancer Prevention %I West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter. %Z 1513-7368 %A Habyarimana, Thierry %A Attaleb, Mohammed %A Mugenzi, Pacifique %A Mazarati, Jean Baptiste %A Bakri, Youssef %A El Mzibri, Mohammed %D 2018 %\ 02/01/2018 %V 19 %N 2 %P 375-379 %! CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda %K breast cancer %K CHEK2 %K mutations %K Rwanda %R 10.22034/APJCP.2018.19.2.375 %X 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. %U https://journal.waocp.org/article_57160_d5a25fa32f435c0bcd86d52c8dbef964.pdf