Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
dc.contributor.author | Lalloo, Fiona | |
dc.contributor.author | Varley, Jennifer | |
dc.contributor.author | Ellis, David | |
dc.contributor.author | Moran, Anthony | |
dc.contributor.author | O'Dair, Lindsay | |
dc.contributor.author | Pharoah, Paul | |
dc.contributor.author | Evans, D Gareth R | |
dc.date.accessioned | 2009-08-21T14:11:09Z | |
dc.date.available | 2009-08-21T14:11:09Z | |
dc.date.issued | 2003-03-29 | |
dc.identifier.citation | Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 2003, 361 (9363):1101-2 Lancet | en |
dc.identifier.issn | 0140-6736 | |
dc.identifier.pmid | 12672316 | |
dc.identifier.doi | 10.1016/S0140-6736(03)12856-5 | |
dc.identifier.uri | http://hdl.handle.net/10541/78233 | |
dc.description.abstract | We 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.iso | en | en |
dc.subject | Breast Cancer | en |
dc.subject | Tumour Suppressor Protein p53 | en |
dc.subject.mesh | Adult | |
dc.subject.mesh | Age Factors | |
dc.subject.mesh | BRCA1 Protein | |
dc.subject.mesh | BRCA2 Protein | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | DNA Mutational Analysis | |
dc.subject.mesh | Female | |
dc.subject.mesh | Gene Frequency | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Genetic Screening | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Penetrance | |
dc.subject.mesh | Risk Assessment | |
dc.subject.mesh | Tumor Suppressor Protein p53 | |
dc.title | Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. | en |
dc.type | Article | en |
dc.contributor.department | Department of Clinical Genetics, St Mary's Hospital, Manchester, UK. fiona.lalloo@cmmc.nhs.uk <fiona.lalloo@cmmc.nhs.uk> | en |
dc.identifier.journal | Lancet | en |
html.description.abstract | We 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. |