© 2001 by Oxford University Press
Journal of the National Cancer Institute, Vol. 93, No. 21, 1633-1637,
November 7, 2001
© 2001 Oxford University Press
REPORT |
Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers
Affiliations of authors: L. C. Hartmann, M. H. Frost (Division of Medical Oncology), T. A. Sellers, D. L. Sitta (Division of Clinical Epidemiology), D. J. Schaid, S. K. McDonnell (Division of Biostatistics), C. L. Soderberg, F. J. Couch, R. B. Jenkins (Department of Laboratory Medicine and Pathology), C. S. Grant, J. H. Donohue, J. E. Woods (Department of Surgery), C. W. Vockley (Department of Medical Genetics), Mayo Clinic and Foundation, Rochester, MN; T. S. Frank, A. Deffenbaugh, Myriad Genetic Laboratories, Salt Lake City, UT.
Correspondence to: Lynn C. Hartmann, M.D., Division of Medical Oncology, Mayo Clinic and Foundation, 200 First St., SW, Rochester, MN 55905 (e-mail: hartmann.lynn{at}mayo.edu).
Background: In women with a family history of breast cancer, bilateral prophylactic mastectomy is associated with a decreased risk of subsequent breast cancer of approximately 90%. We examined the association between bilateral prophylactic mastectomy and breast cancer risk in women at high risk for breast cancer who also had mutations in BRCA1 and BRCA2 genes. Methods: We obtained blood samples from 176 of the 214 high-risk women who participated in our previous retrospective cohort study of bilateral prophylactic mastectomy. We used conformation-sensitive gel electrophoresis and direct sequence analysis of the blood specimens to identify women with mutations in BRCA1 and BRCA2. The carriers' probabilities of developing breast cancer were estimated from two different penetrance models. Results: We identified 26 women with an alteration in BRCA1 or BRCA2. Eighteen of the mutations were considered to be deleterious and eight to be of uncertain clinical significance. None of the 26 women has developed breast cancer after a median of 13.4 years of follow-up (range, 5.8–28.5 years). Three of the 214 women are known to have developed a breast cancer after prophylactic mastectomy. For two of these women, BRCA1 and BRCA2 screening was negative, and no blood specimen was available for the third. Estimations of the effectiveness of prophylactic mastectomy were performed, considering this woman as both a mutation carrier and a noncarrier. These calculations predicted that six to nine breast cancers should have developed among the mutation carriers, which translates into a risk reduction, after bilateral prophylactic mastectomy, of 89.5%–100% (95% confidence interval = 41.4% to 100%). Conclusions: Prophylactic mastectomy is associated with a substantial reduction in the incidence of subsequent breast cancer not only in women identified as being at high risk on the basis of a family history of breast cancer but also in known BRCA1 or BRCA2 mutation carriers.
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|
|
|
|
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|
|
|
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|
|
|
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|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 M.-C. King, J. H. Marks, and J. B. Mandell Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 Science, October 24, 2003; 302(5645): 643 - 646. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P Watson, S A Narod, R Fodde, A Wagner, J F Lynch, S T Tinley, C L Snyder, S A Coronel, B Riley, Y Kinarsky, et al. Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer J. Med. Genet., August 1, 2003; 40(8): 591 - 596. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 C. S. Sinclair, C. Adem, A. Naderi, C. L. Soderberg, M. Johnson, L. Wadum, V. L. Couch, T. A. Sellers, D. Schaid, J. Slezak, et al. TBX2 Is Preferentially Amplified in BRCA1- and BRCA2-related Breast Tumors Cancer Res., July 1, 2002; 62(13): 3587 - 3591. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
H. T. Lynch, J. F. Lynch, and W. S. Rubinstein Prophylactic Mastectomy: Obstacles and Benefits J Natl Cancer Inst, November 7, 2001; 93(21): 1586 - 1587. [Full Text] [PDF]
|
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