Send to

Choose Destination
See comment in PubMed Commons below
Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.

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

Collaborators (212)

Ardern-Jones A, Adlard J, Attard G, Bailey K, Bancroft E, Bardsley C, Barton D, Barwell J, Baxter L, Belk R, Berg J, Bishop T, Boyes L, Bradshaw N, Brady A, Brant S, Brewer C, Brice G, Bromilow G, Brooks C, Bruce A, Bulman B, Burgess L, Campbell J, Castle B, Cetnarskyj R, Chapman C, Claber O, Coates N, Cole T, Collins A, Cook J, Coulson S, Crawford G, Cruger D, Cummings C, D'Mello L, Davidson R, Day L, de Silva L, Dell B, Dolling C, Donaldson A, Donaldson A, Dorkins H, Douglas F, Downing S, Drummond S, Dunlop J, Durrell S, Eccles D, Eddy C, Edwards M, Edwards E, Edwardson J, Eeles R, Ellis I, Elmslie F, Evans G, Gibbens B, Gardiner C, Giblin C, Gibson S, Goff S, Goodman S, Goudie D, Greenhalgh L, Greer J, Gregory H, Halliday D, Hardy R, Hartigan C, Heaton T, Henderson A, Higgins C, Hodgson S, Holt T, Homfray T, Horrigan D, Houghton C, Houlston RS, Hughes L, Hunt V, Irvine L, Izatt L, Jackson L, Jacobs C, James S, James M, Jeffers L, Jobson I, Jones W, Kennedy MJ, Kenwrick S, Kightley C, Kirk C, Kirk L, Kivuva E, Kumar A, Lalloo F, Lambord N, Langman C, Leonard P, Levene S, Locker S, Logan P, Longmuir M, Lucassen A, Lyus V, Magee A, Male A, Mansour S, McBride D, McCann E, McConnell V, McEntagart M, McDermot K, McKeown C, McLeish L, McLeod D, Mercer L, Mercer C, Miedzybrodzka Z, Miller J, Mitra A, Morrison PJ, Murday V, Murray A, Myring J, Paterson J, Pearson P, Pichert G, Platt K, Porteous M, Pottinger C, Price S, Protheroe L, Pugh S, Quarrell O, Riddick C, Robertson L, Robinson A, Roffey-Johnson V, Rogers M, Rose S, Rowe S, Schofield A, Rahman N, Scott G, Scott J, Searle A, Shanley S, Sharif S, Shaw J, Shea-Simonds J, Side L, Sillibourne J, Simon K, Simpson S, Slater S, Smith K, Snadden L, Soloway J, Stait Y, Stayner B, Steel M, Steel C, Stewart H, Stirling D, Thomas M, Thomas S, Tomkins S, Turner H, Tyler E, Wakeling E, Waldrup F, Walker L, Watt C, Watts S, Webber A, Whyte C, Wiggins J, Williams E, Winchester L, Tutt A, Bliss J, Ellis P, Harries M, Ashworth A, Reis-Filho J, Leonard R, Miles D, Pinder S, Smith I, Gillett C, Barrett-Lee P, Debruyne P, Harper-Wynne C, Wardley A, Earl H, O'Reilly S, Roylance R, Jones A, Kernaghan S, Kilburn L, Rogers L, Shaw A, Parmar M, Thompson R, Ellis I, Rahman N, Parker P.

Author information

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.



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.


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.


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.


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.

[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Support Center