BRCA1 Mutations in Women Attending Clinics That Evaluate the Risk of Breast Cancer

doi:10.1056/NEJM199705153362002

Volume 336:1409-1415		May 15, 1997		Number 20

BRCA1 Mutations in Women Attending Clinics That Evaluate the Risk of Breast Cancer

Fergus J. Couch, Ph.D., Michelle L. DeShano, B.S., M. Anne Blackwood, M.D., Kathleen Calzone, B.S.N., R.N., Jill Stopfer, M.S., Lisa Campeau, B.A., Arupa Ganguly, Ph.D., Timothy Rebbeck, Ph.D., Barbara L. Weber, M.D., Lisa Jablon, M.D., Melody A. Cobleigh, M.D., Kent Hoskins, M.D., and Judy E. Garber, M.D.

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ABSTRACT

Background To define the incidence of BRCA1 mutations amongpatients seen in clinics that evaluate the risk of breast cancer,we analyzed DNA samples from women seen in this setting andconstructed probability tables to provide estimates of the likelihoodof finding a BRCA1 mutation in individual families.

Methods Clinical information, family histories, and blood forDNA analysis were obtained from 263 women with breast cancer.Conformation-sensitive gel electrophoresis and DNA sequencingwere used to identify BRCA1 mutations.

Results BRCA1 mutations were identified in 16 percent of womenwith a family history of breast cancer. Only 7 percent of womenfrom families with a history of breast cancer but not ovariancancer had BRCA1 mutations. The rates were higher among womenfrom families with a history of both breast and ovarian cancer.Among family members, an average age of less than 55 years atthe diagnosis of breast cancer, the presence of ovarian cancer,the presence of breast and ovarian cancer in the same woman,and Ashkenazi Jewish ancestry were all associated with an increasedrisk of detecting a BRCA1 mutation. No association was foundbetween the presence of bilateral breast cancer or the numberof breast cancers in a family and the detection of a BRCA1 mutation,or between the position of the mutation in the BRCA1 gene andthe presence of ovarian cancer in a family.

Conclusions Among women with breast cancer and a family historyof the disease, the percentage with BRCA1 coding-region mutationsis less than the 45 percent predicted by genetic-linkage analysis.These results suggest that even in a referral clinic specializingin screening women from high-risk families, the majority oftests for BRCA1 mutations will be negative and therefore uninformative.

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From the Departments of Medicine (F.J.C., M.L.D., M.A.B., K.C., J.S., L.C., B.L.W.), Genetics (A.G., B.L.W.), and Biostatistics and Epidemiology (M.A.B., T.R.), University of Pennsylvania, Philadelphia. Other authors were Lisa Jablon, M.D. (Albert Einstein Medical Center, Philadelphia), Melody A. Cobleigh, M.D. (Rush–Presbyterian–St. Luke's Medical Center, Chicago), Kent Hoskins, M.D. (Rockford Memorial Hospital, Rockford, Ill.), and Judy E. Garber, M.D. (Dana–Farber Cancer Institute, Boston).

Address reprint requests to Dr. Weber at the University of Pennsylvania, 1009 Stellar Chance Laboratories, 422 Curie Blvd., Philadelphia, PA 19104.

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