Trial Information

Clinical Significance of Germline BRCA Mutations

The objectives of this study are to characterize the clinical significance of mutations of
established breast and ovarian cancer susceptibility genes. This will include analysis of
the penetrance and spectrum of mutations of BRCA1 and BRCA2 alterations. Sequencing analysis
for BRCA1 mutations has been performed on a subset of 60 cases in this protocol as part of
the "Beta testing" program of Myriad Genetics, Inc. Follow-up of BRCA1 and BRCA2
heterozygotes will allow estimates of penetrance as well as establish the efficacy of
surgical interventions, including prophylactic mastectomy, and other preventive strategies,
as well as the effect of hormonal, environmental, or treatment induced factors in mediating
breast and ovarian cancer risk. With respect to treatment induced risks, it is possible that
such therapies as radiation, may actually induce second somatic mutations in both BRCA and
other genes.