Beyond heredity mutations: alterations in the Fanconi anemia/BRCA pathway and its role in ovarian tumorigenesis
نویسندگان
چکیده
The Fanconi anemia (FA)/BRCA pathway consists of fifteen proteins that mediate DNA homologous recombination (HR) and promote chromosomal stability. Here we review the evidence that genetic and epigenetic alterations in BRCA2 (FANCD1), BRIP1 (FANCJ), FANCD2, FANCF, PALB2 (FANCN) and RAD51C (FANCO), render ovarian cells susceptible to malignant transformation. In addition, we discuss the paradoxical findings that BRCA2 and FANCD2 are upregulated in subsets of ovarian cancer patients and how these findings suggest potential tailored therapies.
منابع مشابه
BRCA1: a missing link in the Fanconi anemia/BRCA pathway.
Domchek and colleagues provide a case report of a 28-year-old woman with congenital abnormalities, inherited ovarian cancer, and carboplatin hypersensitivity. Interestingly, the woman had validated germline mutations in both BRCA1 alleles. These findings further implicate BRCA1 in the Fanconi anemia/BRCA pathway and have important implications for BRCA1 genetic testing.
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Author’s Affi liation: Departments of Radiation Oncology and Pediatrics, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts Corresponding Author: Alan D. D’Andrea, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA 02215. Phone: 617-632-2112; Fax: 617-632-5757; E-mail: [email protected] doi: 10.1158/2159-8290.CD-13-0044 ©2013 American Association...
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