Abramson Cancer Center of the University of Pennsylvania
Ultima Vez Modificado: 20 de mayo del 1996
Henry T. Lynch, M.D., professor and chairman, Department of Preventive medicine and Public Heath, and Director, Creighton Cancer Center, Creighton University (Omaha, NE), presented a study of 14 families with hereditary breast-ovarian cancer (HBOC), comprising 2,549 direct line blood relatives. All the families were under evaluation for at least six years and some of them for as long as 30 years.
Extensive counseling of family members was conducted about the natural history of HBOC, the meaning and significance of the BRCA1 gene, and available screening and treatment strategies, including prophylactic surgery. Liabilities of BRCA1 disclosure were also discussed, including the potential for fear, anxiety, family disruption, cost of testing and counseling, and discrimination by insurance companies and employers.
After informed consent, the researchers performed DNA testing on 388 individuals, of whom 181 received their results (78 positive and 100 negative for BRCA1, and 3 ambiguous) in concert with genetic counseling. Patient response to their BRCA1 results were extremely variable. For example, approximately 25% of the patients expressed moderate to grave concern for potential insurance discrimination. Emotional responses also varied. in the group who tested positive for BRCA1, 36% were sad or crying upon hearing the results, while 27% said they were not surprised at the result. Of those women who tested negative for BRCA1 gene, 81% were "happy/relieved" while approximately 4% had "survival guilt."
Prior to receiving their BRCA1 results, many women were strongly considering prophylactic mastectomy or oophorectomy (removal of the ovaries) to lower their risk of developing cancer. in the group that tested positive for BRCA1, 32% had considered prophylactic mastectomy prior to hearing the results, and this percentage rose slightly to 35% after learning that they had the gene. Of the women who tested negative for BRCA1, approximately 22% had strongly considered prophylactic mastectomy before knowing the results; this percentage dropped to zero after they learned that they did not have the gene. This percentage was duplicated in those women considering oophorectomy (40% before knowing the results, 0% after learning they were BRCA1 negative).
"A BRCA1 mutation positive result did not significantly alter the number of women strongly considering prophylactic mastectomy or oophorectomy," said Barbara L. Weber, M.D., associate professor and director, Breast Cancer Program, Abramson Cancer Center of the University of Pennsylvania (Philadelphia, PA), at a press briefing today. "However, those women who found out that they were negative for a BRCA1 mutation were able to avoid unnecessary surgery."English
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