Some cases of breast and ovarian cancer are familial and strike women in the same family who have a heritable mutation of a gene called BRCA2 that is involved in DNA repair. However, these genetic cases are in the minority. Most cases of breast and ovarian cancer are sporadic. They occur in women with no family history of these cancers.
In sporadic breast and ovarian cancer, EMSY is amplified and overexpressed. EMSY suppresses the activity of the BRCA2 gene. The overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. EMSY connects sporadic breast and ovarian cancer to BRCA2.
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