Prophylactic mastectomy: deliverance or delusion?BMJ 1998; 317 doi: https://doi.org/10.1136/bmj.317.7170.1402 (Published 21 November 1998) Cite this as: BMJ 1998;317:1402
We don't know, so we need to start registering all cases now
- Ian S Fentiman, Professor of surgical oncology
- Guy's Hospital, London SE1 9RT
To prophesy the future we no longer need to examine the entrails of sacrificial animals. Mutant genes predisposing affected individuals to life threatening conditions such as vascular disease and malignancy have been identified. Although the multifactorial and environmental wild cards remain, thegenetic card deck is gradually being laid face up on the table. But withouteffective interventions, knowledge of genetic risk may serve only to fuel anxiety and encourage the adoption of denial behaviour.
Germ line genetic mutations are responsible for only 5-10% of cases of breast cancer, but worried individuals form a disproportionately large part of the clinical workload. Almost half the cases of familial breast cancer and 75% of those with both ovarian and mammary malignancy are due to BRCA1 mutations, located on chromosome 17q21.1 The 185delAG mutation is present in 1% of Ashkenazi Jewish women and in 21% of those developing breast cancer before the …