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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
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 <50 years had >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 <50 years would generate an extra 1200 tests annually in England.

Conclusion: Women with TN breast cancer diagnosed below 50 years have >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.
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Robertson, L.
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Hanson, H.
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Seal, S.
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Warren-Perry, M.
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Hughes, D.
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Howell, I.
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Turnbull, C.
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Houlston, R.
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Shanley, S.
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Butler, S.
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Evans, D.G.
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Ross, G.
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Eccles, D.
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Tutt, A.
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Rahman, N.
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Robertson, L.
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Hanson, H.
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Seal, S.
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Warren-Perry, M.
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Hughes, D.
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Howell, I.
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Turnbull, C.
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Houlston, R.
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Shanley, S.
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Butler, S.
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Evans, D.G.
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Ross, G.
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Eccles, D.
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Tutt, A.
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Rahman, N.
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Robertson, L., Hanson, H., Seal, S., Warren-Perry, M., Hughes, D., Howell, I., Turnbull, C., Houlston, R., Shanley, S., Butler, S., Evans, D.G., Ross, G., Eccles, D., Tutt, A. and Rahman, N. (2012) BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. British Journal of Cancer, 106 (6), 1234-1238. (doi:10.1038/bjc.2012.31). (PMID:22333603)

Record type: Article

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 <50 years had >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 <50 years would generate an extra 1200 tests annually in England.

Conclusion: Women with TN breast cancer diagnosed below 50 years have >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.

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Published date: 13 March 2012
Organisations: Cancer Sciences

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Local EPrints ID: 352307
URI: https://eprints.soton.ac.uk/id/eprint/352307
ISSN: 0007-0920
PURE UUID: 2ec060bf-86e3-4a2f-b20b-934fa3d37b8a

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Date deposited: 09 May 2013 11:04
Last modified: 16 Jul 2019 21:34

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Contributors

Author: L. Robertson
Author: H. Hanson
Author: S. Seal
Author: M. Warren-Perry
Author: D. Hughes
Author: I. Howell
Author: C. Turnbull
Author: R. Houlston
Author: S. Shanley
Author: S. Butler
Author: D.G. Evans
Author: G. Ross
Author: D. Eccles
Author: A. Tutt
Author: N. Rahman

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