Publication: Functional analysis of familial Asp67Glu and Thr1051Ser BRCA1 mutations in breast/ovarian carcinogenesis
Issued Date
2009-09-01
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ISSN
14220067
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2-s2.0-70350043057
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Mahidol University
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SCOPUS
Bibliographic Citation
International Journal of Molecular Sciences. Vol.10, No.9 (2009), 4187-4197
Suggested Citation
Malinee Pongsavee, Pimpicha Patmasiriwat, Grady F. Saunders Functional analysis of familial Asp67Glu and Thr1051Ser BRCA1 mutations in breast/ovarian carcinogenesis. International Journal of Molecular Sciences. Vol.10, No.9 (2009), 4187-4197. doi:10.3390/ijms10094187 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/27155
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Title
Functional analysis of familial Asp67Glu and Thr1051Ser BRCA1 mutations in breast/ovarian carcinogenesis
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Abstract
Estrogen is believed to be pre-initiator in the risk of breast cancer. The BRCA1 is a tumor suppressor gene associated with breast and ovarian cancer risk. This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand. Levels of luciferase activity of the two mutations were relatively lower than in the wild-type BRCA1. It is indicated that mutants may fail to promote the estrogen receptor dependent functions. It is presumed that estrogen and insulin/IGF-1 regulate c-Myc and cyclin D1 during breast cancer cell proliferation. It is also likely to affect ubiquitination mechanism. Since three affected cancer families carry the Asp67Glu mutation, it is believed that this type of mutation could have some effect on breast/ovarian cancer progression. © 2009 by the authors; licensee Molecular Diversity Preservation International.