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Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
Lalloo, Fiona Varley, Jennifer Ellis, David Moran, Anthony O'Dair, Lindsay Pharoah, Paul Evans, D Gareth R
Lalloo, Fiona
Varley, Jennifer
Ellis, David
Moran, Anthony
O'Dair, Lindsay
Pharoah, Paul
Evans, D Gareth R
Citations
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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.
Description
Date
2003-03-29
Publisher
Collections
Keywords
Breast Cancer
Tumour Suppressor Protein p53
Tumour Suppressor Protein p53
Type
Article
Citation
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 2003, 361 (9363):1101-2 Lancet