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dc.contributor.authorGasco, M.en_US
dc.contributor.authorYulug, I. G.en_US
dc.contributor.authorCrook, T.en_US
dc.date.accessioned2018-04-12T13:44:27Z
dc.date.available2018-04-12T13:44:27Z
dc.date.issued2003en_US
dc.identifier.issn1059-7794
dc.identifier.urihttp://hdl.handle.net/11693/38100
dc.description.abstractMutation in p53 (TP53) remains one of the most commonly described genetic events in human neoplasia. The occurrence of mutations is somewhat less common in sporadic breast carcinomas than in other cancers, with an overall frequency of about 20%. There is, however, evidence that p53 is mutated at a significantly higher frequency in breast carcinomas arising in carriers of germ-line BRCA1 and BRCA2 mutations. Some of the p53 mutants identified in BRCA1 and BRCA2 mutation carriers are either previously undescribed or infrequently reported in sporadic human cancers. Functional characterization of such mutants in various systems has revealed that they frequently possess properties not commonly associated with those occurring in sporadic cases: they retain apoptosis-inducing, transactivating, and growth-inhibitory activities similar to the wild-type protein, yet are compromised for transformation suppression and also possess an independent transforming phenotype. The occurrence of such mutants in familial breast cancer implies the operation of distinct selective pressures during tumorigenesis in BRCA-associated breast cancers.en_US
dc.language.isoEnglishen_US
dc.source.titleHuman Mutationen_US
dc.relation.isversionofhttp://dx.doi.org/10.1002/humu.10173en_US
dc.subjectApoptosisen_US
dc.subjectBRCA1en_US
dc.subjectBRCA2en_US
dc.subjectBreast canceren_US
dc.subjectCanceren_US
dc.subjectLFSen_US
dc.subjectLi- Fraumeni syndromeen_US
dc.subjectp53en_US
dc.subjectTP53en_US
dc.subjectTransactivationen_US
dc.subjectTumoren_US
dc.subjectBRCA1 proteinen_US
dc.subjectBRCA2 proteinen_US
dc.subjectProtein p53en_US
dc.subjectBreast canceren_US
dc.subjectCarcinogenesisen_US
dc.subjectFamilial diseaseen_US
dc.subjectGene functionen_US
dc.subjectGene mutationen_US
dc.subjectGenetic analysisen_US
dc.subjectHeterozygoteen_US
dc.subjectHumanen_US
dc.subjectNucleotide sequenceen_US
dc.subjectPhenotypeen_US
dc.subjectPriority journalen_US
dc.subjectReviewen_US
dc.subjectApoptosisen_US
dc.subjectBRCA1 Proteinen_US
dc.subjectBRCA2 Proteinen_US
dc.subjectBreast neoplasmsen_US
dc.subjectFamily healthen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectMutationen_US
dc.subjectTumor suppressor protein p53en_US
dc.titleTP53 mutations in familial breast cancer: Functional aspectsen_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.citation.spage301en_US
dc.citation.epage306en_US
dc.citation.volumeNumber21en_US
dc.citation.issueNumber3en_US
dc.identifier.doi10.1002/humu.10173en_US
dc.publisherJohn Wiley & Sons, Inc.en_US


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