title: Prophylactic mastectomy for genetic predisposition to breast cancer: the proband's story.
abstract: The identification of the BRCA1 gene may prove a mixed blessing in the short term. First, the demand for testing might outstrip available resources, the ethics of testing are complex and the advice to give someone who tests positive is as yet unclear. Furthermore, the psychological dynamics within such families have not yet been considered seriously. As these families might be widespread, there will inevitably be problems involving clinical genetic centres in different parts of the country, or for that matter, in different areas of the world. In this paper we provide a case report, which might be considered an adumbration of things to come. The proband in this story (a co-author) was known to have inherited a genetic predisposition to cancer. This was because her identical twin had already developed the disease and she came from a kindred with a very high probability for carrying a dominant breast cancer gene in the germ line. We describe the personal reactions of an individual woman faced with these difficult decisions, the impact on her family and the impact on the clinical genetic services in different parts of the country. Our experience could help to provide a template for the development of regional services once genetic testing for predisposition to breast cancer becomes widely available.
authors.affiliation: Royal Marsden NHS Trust, Sutton, Surry, UK.
authors.forename: R
authors.initials: R
authors.lastname: Eeles
authors.forename: T
authors.initials: T
authors.lastname: Cole
authors.forename: R
authors.initials: R
authors.lastname: Taylor
authors.forename: P
authors.initials: P
authors.lastname: Lunt
authors.forename: M
authors.initials: M
authors.lastname: Baum
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control* / Q000523:psychology; D018567:Breast Neoplasms, Male / Q000235:genetics; D003657:Decision Making; D005260:Female; D019398:Genes, BRCA1; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D015414:Mastectomy, Subcutaneous / Q000523:psychology*; D008875:Middle Aged; D014430:Twins, Monozygotic