Abstract
Background: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation carriers. Recently, it was proposed that all individuals below 50 years of age with TN breast cancer should be offered BRCA testing. We have evaluated the BRCA1 mutation frequency and the implications for clinical practice of undertaking genetic testing in women with TN breast cancer. Methods: We undertook BRCA1 mutation analysis in 308 individuals with TN breast cancer, 159 individuals from unselected series of breast cancer and 149 individuals from series ascertained on the basis of young age and/or family history. Results :BRCA1 mutations were present in 45 out of 308 individuals. Individuals with TN cancer 10% likelihood of carrying a BRCA1 mutation in both the unselected (11 out of 58, 19%) and selected (26 out of 111, 23%) series. However, over a third would not have been offered testing using existing criteria. We estimate that testing all individuals with TN breast cancer 10% likelihood of carrying a BRCA1 mutation and are therefore eligible for testing in most centres. However, implementation may place short-term logistical and financial burdens on genetic services. © 2012 Cancer Research UK All rights reserved.
Original language | English |
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Pages (from-to) | 1234-1238 |
Number of pages | 4 |
Journal | British Journal of Cancer |
Volume | 106 |
Issue number | 6 |
DOIs | |
Publication status | Published - 13 Mar 2012 |
Keywords
- BRCA1
- breast cancer
- genetic testing
- triple-negative