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Annals of Oncology Advance Access published online on August 27, 2009

Annals of Oncology, doi:10.1093/annonc/mdp355
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© The Author 2009. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org

Genetic testing in young women with breast cancer: results from a Web-based survey

K. J. Ruddy1,*, S. Gelber1, J. Shin2, J. E. Garber1, R. Rosenberg3, M. Przypysny3 and A. H. Partridge1

1 Department of Adult Oncology, Breast Oncology Center, Dana-Farber Cancer Institute, Harvard Medical School
2 Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston
3 Advocacy, Young Survival Coalition, New York, USA

* Correspondence to: Dr K. J. Ruddy, Breast Oncology Center, Department of Adult Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA. Tel: +1-617-632-6651; Fax: +1-617-632-1930; E-mail: kruddy{at}partners.org

Background: Young women with breast cancer have an increased risk for harboring a BRCA1 or BRCA2 mutation. Frequency of genetic testing and factors associated with testing have not been well described in this population.

Patients and methods: We evaluated the rate of genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an advocacy group for young women with breast cancer. Items regarding family history and genetic testing were included in a Web-based cross-sectional survey.

Results: A total of 701 women were eligible based on a history of breast cancer diagnosed ≤40 years. Mean age at diagnosis was 32.9 years and mean age at survey 35.7 years. About 41% reported a first- or second-degree relative with breast or ovarian cancer. About 24% had undergone genetic testing, and 26% of those tested reported that a mutation was found. By multivariate logistic regression, likelihood of having undergone testing was higher in women who were younger at diagnosis, were more educated, had a first- or second-degree relative with breast or ovarian cancer, had a mastectomy rather than breast conservation, and considered themselves at high risk for a cancer-predisposing mutation.

Conclusion: Most women diagnosed with breast cancer ≤40 years do not undergo genetic testing.

BRCA1, BRCA2, breast neoplasms, female, genetic counseling, genetic polymorphism

Received for publication February 13, 2009. Revision received May 7, 2009. Accepted for publication June 15, 2009.


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