title: Prophylactic mastectomy and inherited predisposition to breast carcinoma.
abstract: Relative to her risk of breast carcinoma, the woman with a BRCA1 or BRCA2 gene mutation can be managed either by intensive screening (with or without chemoprevention) or by prophylactic mastectomy. Although it would be preferable to avoid prophylactic surgery, the current level of screening technology and the rudimentary state of chemoprevention do not guarantee a good outcome with intensive surveillance. A review of the currently available data was undertaken to determine the efficacy of prophylactic surgery, intensive screening, and chemoprevention. An attempt then was made to extrapolate the efficacy of the various approaches to the management of women who carry BRCA1 or BRCA2 gene mutations. Intensive surveillance may not detect breast carcinoma at an early, curable stage in young women with BRCA1 or BRCA2 gene mutations because the growth rate of the tumors in these women most likely will be rapid and the density of the breast tissue may compromise detection. Chemoprevention is in its infancy, and its efficacy in this population is unknown. Conversely, prophylactic surgery may not be completely effective in preventing breast carcinoma. The authors are hopeful that sometime in the next decade advances in chemoprevention, screening technology, or breast carcinoma treatment will make mastectomy obsolete. However, for the time being prophylactic mastectomy has attributes that make it an alternative for this population that must be considered. Careful discussion of all options is essential in the management of these women.
authors.affiliation: Risk Assessment Clinic, Lahey Clinic, Peabody, Massachusetts 01960, USA.
authors.forename: K S
authors.initials: KS
authors.lastname: Hughes
authors.forename: M Z
authors.initials: MZ
authors.lastname: Papa
authors.forename: T
authors.initials: T
authors.lastname: Whitney
authors.forename: R
authors.initials: R
authors.lastname: McLellan
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D016462:Mammaplasty; D008408:Mastectomy; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D017063:Outcome Assessment, Health Care; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors