Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
Authors
Lalloo, FionaVarley, Jennifer
Ellis, David
Moran, Anthony
O'Dair, Lindsay
Pharoah, Paul
Evans, D Gareth R
Affiliation
Department of Clinical Genetics, St Mary's Hospital, Manchester, UK. fiona.lalloo@cmmc.nhs.uk <fiona.lalloo@cmmc.nhs.uk>Issue Date
2003-03-29
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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.Citation
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 2003, 361 (9363):1101-2 LancetJournal
LancetDOI
10.1016/S0140-6736(03)12856-5PubMed ID
12672316Type
ArticleLanguage
enISSN
0140-6736ae974a485f413a2113503eed53cd6c53
10.1016/S0140-6736(03)12856-5
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