Function of BRCA1 and BRCA2

The exact function of the BRCA1 and BRCA2 genes is not known, however, current evidence suggests that they are involved in repair of DNA damage and the control of DNA replication fidelity. In support of this concept, mouse models with loss of both alleles of either BRCA1 or BRCA2 result in severe growth deficit and embryonic death. This has been associated with activation of the p53 DNA damage response pathway (98-100). Similarly, in patients with BRCA1 and BRCA2 associated breast cancers, more than 90% display inactivation of p53 (101-103).

In some respects, BRCA1 and BRCA2 function as tumor suppressor genes. Patients with germline mutations in either gene inherit functional loss of one allele, and the

Table 4

Prevalence of BRCA Mutation in Selected Populations

Table 4

Prevalence of BRCA Mutation in Selected Populations

Population

Prevalence (%)

General population

0 0

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