A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients

We prospectively screened a hospital-based population of 1000 successive breast cancer patients receiving adjuvant radiotherapy for predictive factors associated with the presence of BRCA1 and BRCA2 mutations. We offered genetic counseling and DNA analysis to selected patients. About 52% of patients showed at least one presumed predictive factor. Hundred and thirty-seven patients underwent DNA analysis. We identified 14 deleterious mutations (10.2%, 95% CI: 5.2-15.3%): 8 BRCA1 mutations and 6 BRCA2 mutations and 14 variants of uncertain clinical significance. Ovarian cancer in the family history was the only factor significantly associated with the presence of a disease-causing mutation (P <0.01). Eight of the 14 (57%) mutation carriers had no affected first-degree relatives and in 4 of these there was no family history of breast or ovarian cancer. Clinicians should offer genetic counseling and DNA testing to breast cancer patients from families with breast and ovarian cancer, and to patients who are younger than 45 years when they are diagnosed with breast cancer. (c) 2005 Elsevier Ltd. All rights reserved

A poor prognosis for autonomy: self-regulated cosmetic surgery in the United Kingdom

In recent years, cosmetic surgery in the United Kingdom, which is provided almost entirely by the private sector, has gained in popularity despite evidence of its potential risks to patients. Over 32,000 procedures were reported by one association of cosmetic surgeons alone in 2007, three times more than in 2003. This article examines the regulation of cosmetic surgery in the UK, in light of the need for informed consent and the importance of patient autonomy. Since 2000, the government has attempted through legislation covering all health care provision to regulate cosmetic surgeons' qualifications, patient rights to information, and the inspection and registration of premises. However, the risk to patients from unregistered and poorly qualified surgeons, and from private clinics with a poor quality of care, has still not been adequately addressed. Moreover, ensuring informed consent and the maintenance of standards has been left to professional self-regulation. An independent, government-funded umbrella organisation with lay representation and sufficient powers of registration and inspection of all relevant cosmetic surgery practitioners is needed to fully protect patients, and should have its roots in specific legislation governing cosmetic surgery