Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

2.50
Hdl Handle:
http://hdl.handle.net/10541/78233
Title:
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
Authors:
Lalloo, Fiona; Varley, Jennifer; Ellis, David; Moran, Anthony; O'Dair, Lindsay; Pharoah, Paul; Evans, D Gareth R
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.
Affiliation:
Department of Clinical Genetics, St Mary's Hospital, Manchester, UK. fiona.lalloo@cmmc.nhs.uk <fiona.lalloo@cmmc.nhs.uk>
Citation:
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 2003, 361 (9363):1101-2 Lancet
Journal:
Lancet
Issue Date:
29-Mar-2003
URI:
http://hdl.handle.net/10541/78233
DOI:
10.1016/S0140-6736(03)12856-5
PubMed ID:
12672316
Type:
Article
Language:
en
ISSN:
0140-6736
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
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.en
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

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