Human Molecular Genetics, Vol 7, 195-202, Copyright © 1998 by Oxford University Press
TH Thai, F Du, JT Tsan, Y Jin, A Phung, MA Spillman, HF Massa, CY Muller, R Ashfaq, JM Mathis, DS Miller, BJ Trask, R Baer and AM Bowcock
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. Accordingly, BARD1 is likely
to be a critical factor in BRCA1-mediated tumor suppression and may also
serve as a target for tumorigenic lesions in some human cancers. 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.
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Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
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