Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers

To Hoa Thai, Fenghe Du, Julia Tsou Tsan, Ying Jin, Anne Phung, Monique A. Spillman, Hillary F. Massa, Carolyn Y. Muller, Raheela Ashfaq, J. Michael Mathis, David S. Miller, Barbara J. Trask, Richard Baer, Anne M. Bowcock

Research output: Contribution to journalArticlepeer-review

161 Scopus citations


Germline alterations of BRCA1 result in susceptibility to breast and ovarian cancer. The protein encoded by BRCA1 interacts in vivo with the BRCA1-associated RING domain (BARD1) protein. . We have now determined the genomic structure of BARD1 and performed a mutational analysis of 58 ovarian tumors, 50 breast tumors and 60 uterine tumors, Seven polymorphisms were detected within the 2.34 kb coding sequence of BARD1. Somatically acquired missense mutations were observed in one breast carcinoma and one endometrial tumor; in at least one of these cases, tumor formation was accompanied by loss of the wild-type BARD1 allele, following the paradigm for known tumor suppressor genes. In addition, a germline alteration of BARD1 was identified in a clear cell ovarian tumor (Gln564His); again, loss of the wild-type BARD1 allele was observed in the malignant cells of this patient. The Gln564His patient was also diagnosed with two other primary cancers: a synchronous lobular breast carcinoma and a stage IA clear cell endometrioid cancer confined to an endometrial polyp 6 years earlier. These findings suggest an occasional role for BARD1 mutations in the development of sporadic and hereditary tumors.

Original languageEnglish (US)
Pages (from-to)195-202
Number of pages8
JournalHuman molecular genetics
Issue number2
StatePublished - Feb 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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