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dc.contributor.authorLalloo, Fiona
dc.contributor.authorVarley, Jennifer
dc.contributor.authorEllis, David
dc.contributor.authorMoran, Anthony
dc.contributor.authorO'Dair, Lindsay
dc.contributor.authorPharoah, Paul
dc.contributor.authorEvans, D Gareth R
dc.date.accessioned2009-08-21T14:11:09Z
dc.date.available2009-08-21T14:11:09Z
dc.date.issued2003-03-29
dc.identifier.citationPrediction of pathogenic mutations in patients with early-onset breast cancer by family history. 2003, 361 (9363):1101-2 Lanceten
dc.identifier.issn0140-6736
dc.identifier.pmid12672316
dc.identifier.doi10.1016/S0140-6736(03)12856-5
dc.identifier.urihttp://hdl.handle.net/10541/78233
dc.description.abstractWe aimed to assess frequency and penetrance of BRCA1, BRCA2,and TP53 mutations in women diagnosed with breast cancer aged 30 years or younger, and then correlate this frequency with family history. 17 of 36 familial cases had a BRCA1, BRCA2, or TP53 mutation, compared with three of 63 non-familial cases.The calculated population frequency of TP53 mutations was one in 5000, substantially greater than previous estimates. This finding underlines the importance of accurate elucidation of a family history from young women diagnosed with breast cancer. Establishment of family history could help with development of patient-specific management and tumour surveillance protocols.
dc.language.isoenen
dc.subjectBreast Canceren
dc.subjectTumour Suppressor Protein p53en
dc.subject.meshAdult
dc.subject.meshAge Factors
dc.subject.meshBRCA1 Protein
dc.subject.meshBRCA2 Protein
dc.subject.meshBreast Neoplasms
dc.subject.meshDNA Mutational Analysis
dc.subject.meshFemale
dc.subject.meshGene Frequency
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenetic Screening
dc.subject.meshHumans
dc.subject.meshPenetrance
dc.subject.meshRisk Assessment
dc.subject.meshTumor Suppressor Protein p53
dc.titlePrediction of pathogenic mutations in patients with early-onset breast cancer by family history.en
dc.typeArticleen
dc.contributor.departmentDepartment of Clinical Genetics, St Mary's Hospital, Manchester, UK. fiona.lalloo@cmmc.nhs.uk <fiona.lalloo@cmmc.nhs.uk>en
dc.identifier.journalLanceten
html.description.abstractWe aimed to assess frequency and penetrance of BRCA1, BRCA2,and TP53 mutations in women diagnosed with breast cancer aged 30 years or younger, and then correlate this frequency with family history. 17 of 36 familial cases had a BRCA1, BRCA2, or TP53 mutation, compared with three of 63 non-familial cases.The calculated population frequency of TP53 mutations was one in 5000, substantially greater than previous estimates. This finding underlines the importance of accurate elucidation of a family history from young women diagnosed with breast cancer. Establishment of family history could help with development of patient-specific management and tumour surveillance protocols.


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