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rdf:type |
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lifeskim:mentions |
umls-concept:C0006141,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0153567,
umls-concept:C0205065,
umls-concept:C0205225,
umls-concept:C1260969,
umls-concept:C1332381,
umls-concept:C1514562,
umls-concept:C1880389,
umls-concept:C1882954,
umls-concept:C1883204,
umls-concept:C1883221
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pubmed:issue |
2
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pubmed:dateCreated |
1998-3-17
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pubmed:databankReference |
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pubmed:abstractText |
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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0964-6906
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pubmed:author |
pubmed-author:AshfaqRR,
pubmed-author:BaerRR,
pubmed-author:BowcockA MAM,
pubmed-author:JinYY,
pubmed-author:LaiL WLW,
pubmed-author:MassaH FHF,
pubmed-author:MathisJ MJM,
pubmed-author:MillerD SDS,
pubmed-author:MullerC YCY,
pubmed-author:PhungAA,
pubmed-author:SpillmanM AMA,
pubmed-author:ThaiT HTH,
pubmed-author:TraskB JBJ,
pubmed-author:TsanJ TJT
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
195-202
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:9425226-Adenocarcinoma,
pubmed-meshheading:9425226-Adenocarcinoma, Clear Cell,
pubmed-meshheading:9425226-Alleles,
pubmed-meshheading:9425226-Breast Neoplasms,
pubmed-meshheading:9425226-Carcinoma, Ductal, Breast,
pubmed-meshheading:9425226-Carcinoma, Endometrioid,
pubmed-meshheading:9425226-Carcinoma, Intraductal, Noninfiltrating,
pubmed-meshheading:9425226-Carcinoma, Lobular,
pubmed-meshheading:9425226-Carrier Proteins,
pubmed-meshheading:9425226-Cystadenocarcinoma, Papillary,
pubmed-meshheading:9425226-DNA, Neoplasm,
pubmed-meshheading:9425226-DNA Mutational Analysis,
pubmed-meshheading:9425226-Endometrial Neoplasms,
pubmed-meshheading:9425226-Exons,
pubmed-meshheading:9425226-Female,
pubmed-meshheading:9425226-Genes, Tumor Suppressor,
pubmed-meshheading:9425226-Humans,
pubmed-meshheading:9425226-Loss of Heterozygosity,
pubmed-meshheading:9425226-Mixed Tumor, Mullerian,
pubmed-meshheading:9425226-Molecular Sequence Data,
pubmed-meshheading:9425226-Neoplasms, Multiple Primary,
pubmed-meshheading:9425226-Neoplastic Syndromes, Hereditary,
pubmed-meshheading:9425226-Ovarian Neoplasms,
pubmed-meshheading:9425226-Polymerase Chain Reaction,
pubmed-meshheading:9425226-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9425226-Sarcoma,
pubmed-meshheading:9425226-Tumor Cells, Cultured,
pubmed-meshheading:9425226-Tumor Suppressor Proteins,
pubmed-meshheading:9425226-Ubiquitin-Protein Ligases,
pubmed-meshheading:9425226-Uterine Neoplasms
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pubmed:year |
1998
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pubmed:articleTitle |
Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
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pubmed:affiliation |
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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