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KMID : 0603520010060030181
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Journal of Korean Association of Cancer Prevention
2001 Volume.6 No. 3 p.181 ~ p.189
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Recent Progress and New Findings in the Roles of Tumor Suppressor BRCA1
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Jung Jung-Won
Choi Yung-Hyun
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Abstract
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Breast cancer, which results from genetic and environmental factors leading to the accumulation of mutations in essential genes, is a common solid malignancy in women. The hereditary breast and ovarian cancer syndrome includes genetic alterations of various susceptibility genes. Among them, the breast cancer susceptibility gene (BRCA1) on chromosome 17q21 encodes an 1,863 amino acid protein that is important for normal embryonic development. Germline mutations of this gene are linked to a significantly increased lifetime risk for breast and/or ovarian cancer, and recent studies suggest that the same may be true for prostate cancer. Several activities that may contribute to the tumor suppressor function of BRCA1 have been identified via in vitro and in vivo studies. These include ① regulation of cell proliferation; ② participation in DNA repair/recombination; ③ induction of programmed cell death in damaged cells; and ④ regulation of transcription. A second breast cancer susceptibility gene (BRCA2) operates in some of the same molecular pathways as BRCA1, and mutations of this gene predispose to breast and ovarian cancer and probably to other tumor types, including prostate cancer. Less than 5% of breast cancers are hereditary, but over 90% of hereditary breast cancers are caused by a mutation of either BRCA1 or BRCA2. The mutation may be inherited from either the maternal or the paternal side of the family. A large number of diverse functions have been attributed to the BRCA1 and BRCA2 breast cancer susceptibility genes. Here we review recent progress and new findings in the field.
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KEYWORD
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BRCA1, BRCA2, Breast and ovarian cancer
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