| http://purl.uniprot.org/citations/8554067 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8554067 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8554067 | http://www.w3.org/2000/01/rdf-schema#comment | "We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Lenoir G.M."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Lenoir G.M."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Feunteun J."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Feunteun J."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Tonin P."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Tonin P."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Lynch H.T."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Lynch H.T."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Montagna M."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Montagna M."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Narod S.A."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Narod S.A."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Serova O."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Serova O."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Sylla B."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Sylla B."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Torchard D."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/author | "Torchard D."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8554067 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |