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[Cancer Research 57, 3347-3350, August 15, 1997]
© 1997 American Association for Cancer Research
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Methylation of the BRCA1 Gene in Sporadic Breast Cancer1

Alexander Dobrovic2 and David Simpfendorfer

Department of Haematology-Oncology [A. D.] and University of Adelaide Department of Medicine [A. D., D. S.], The Queen Elizabeth Hospital, Woodville, South Australia 5011, Australia

Mutations of the BRCA1 gene in tumor DNA from patients with sporadic breast cancer have not yet been observed. Nevertheless, BRCA1 activity is markedly decreased in invasive breast tumors. Previous reports have shown that hypermethylation of the promoter region is an alternative mechanism to mutation for the inactivation of tumor suppressor genes. We examined the BRCA1 promoter region for hypermethylation by Southern blotting. Hypermethylation was observed in two of seven sporadic breast carcinomas but not in any normal tissues. The hypermethylation was not an artifact because a control region was unmethylated in the two tumors. Although not all tumors were hypermethylated, these observations are consistent with an important role for epigenetic mechanisms in human cancer.

1 This work was funded in part by a B3 Grant from the University of Adelaide Faculty of Medicine.

2 To whom requests for reprints should be addressed. E-mail: adobrovic@medicine.adelaide.edu.au.

Received 4/28/97. Accepted 6/30/97.




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