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

被引：136
|
作者：
Lalloo, F [1 ]
Varley, J
Ellis, D
Moran, A
O'Dair, L
Pharoah, P
Evans, DGR
机构：
[1] St Marys Hosp, Dept Clin Genet, Manchester M13 0JH, Lancs, England
[2] Christie NHS Trust, Canc Res UK Paterson Inst Canc Res, Manchester, Lancs, England
[3] Guys Hosp, London SE1 9RT, England
[4] Univ Manchester, Ctr Canc Epidemiol, Manchester M13 9PL, Lancs, England
[5] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Cambridge CB2 1TN, England
来源：
LANCET | 2003年 / 361卷 / 9363期
关键词：
D O I：
10.1016/S0140-6736(03)12856-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1101 / 1102
页数：2
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