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|Title:||Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history|
Mohd Taib, N.A.
|Citation:||Kang, P.C.E., Phuah, S.Y., Sivanandan, K., Kang, I.N., Thirthagiri, E., Liu, J.J., Hassan, N., Yoon, S.-Y., Thong, M.K., Hui, M., Hartman, M., Yip, C.H., Mohd Taib, N.A., Teo, S.H. (2014). Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history. Breast Cancer Research and Treatment 144 (3) : 635-642. ScholarBank@NUS Repository. https://doi.org/10.1007/s10549-014-2894-x|
|Abstract:||Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with|
|Source Title:||Breast Cancer Research and Treatment|
|Appears in Collections:||Staff Publications|
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