| http://purl.uniprot.org/citations/9425226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9425226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9425226 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.2.195"xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.2.195"xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Du F."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Du F."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Baer R."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Baer R."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Jin Y."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Jin Y."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Trask B.J."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Trask B.J."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Ashfaq R."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Ashfaq R."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Bowcock A.M."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Bowcock A.M."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Massa H.F."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Massa H.F."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Mathis J.M."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Mathis J.M."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Miller D.S."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Miller D.S."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Muller C.Y."xsd:string |
| http://purl.uniprot.org/citations/9425226 | http://purl.uniprot.org/core/author | "Muller C.Y."xsd:string |