Early breast and ovarian cancers detected in high-risk women

NEW YORK, March 1, 2002 When the BRCA1 and BRCA2 genes for breast and ovarian cancers were first identified and a screening blood test became available, the discoveries provoked a debate as to whether there was an advantage to learning ones risk. The value has been demonstrated in the first study of women who have been followed after being identified as carriers of a BRCA genetic mutation. Researchers at Memorial Sloan-Kettering Cancer Center have now provided strong evidence that breast and ovarian cancers can be detected at early stage in women at the highest hereditary risk. These findings are published in the March 1, 2002 issue of The Journal of Clinical Oncology.

These results provide the first prospective evidence that BRCA testing can lead to interventions that result in the diagnosis of early-stage breast and ovarian cancers, said Dr. Kenneth Offit, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering and senior author of the study.

For BRCA mutation carriers, there is a markedly increased risk for early-onset breast cancer and an increased lifetime risk for ovarian cancer. In addition, there is an increased risk for subsequent malignancies in breast cancer survivors and an increased risk for developing male breast cancer. The study looked at 251 individuals, including 233 women, who were identified as having mutations in the BRCA1 or BRCA2 after testing and counseling at Sloan-Kettering. The participants received uniform recommendations for intensified screening and preventive surgery in the context of genetic counseling. Over the course of the study, 21 women were diagnosed with early breast or ovarian cancers.

There were 165 women identified to be at risk for breast cancer that chose increased surveillance. Breast cancer was detected in twelve patients in this group with nine of the tumors diagnosed at the earliest stage. Half of these breast cancers were detected by mammography (including one by MRI) and half we

Contact: Joanne Nicholas
Memorial Sloan-Kettering Cancer Center

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