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THE CARRIER CLINIC: AN EVALUATION OF A NOVEL CLINIC DEDICATED TO THE FOLLOW UP OF BRCA1 AND BRCA2 CARRIERS; IMPLICATIONS FOR ONCOGENETICS PRACTICE.

Abstract : BACKGROUND A novel oncogenetic clinic was established in 2002 at the Royal Marsden NHS Foundation Trust offering advice and specialist follow-up for families with a germline mutation in or . The remit of this multidisciplinary clinic, staffed by individuals in both oncology and genetics, is to provide individualised screening recommendations, support in decision-making, risk-reducing strategies, cascade testing, and an extensive research portfolio. METHODS A retrospective analysis was performed to evaluate uptake of genetic testing, risk-reducing surgery and cancer prevalence in 346 families seen between January 1996 and December 2006. RESULTS 661 individuals attended the clinic and 406 mutation carriers were identified; 85.8% mutation carriers have chosen to attend for annual follow-up. 70% of mutation carriers elected for risk-reducing bilateral salpingo-oophorectomy (RRBSO). 32% of unaffected women chose risk-reducing bilateral mastectomy; 32% of women with breast cancer chose contralateral risk-reducing mastectomy at time of diagnosis. Some women took over eight years to decide to have surgery. 91% of individuals approached agreed to participate in research programmes. INTERPRETATION A novel specialist clinic for mutation carriers has been successfully established. The number of mutation positive families is increasing. This and high demand for RRBSO in women over 40 is inevitably going to place an increasing demand on existing health resources. Our clinic model has subsequently been adopted in other centres and this will greatly facilitate translational studies and provide a healthcare structure for management and follow up of such people who are at a high cancer risk.
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https://hal.archives-ouvertes.fr/hal-00557372
Contributor : Hal Peer <>
Submitted on : Wednesday, January 19, 2011 - 3:08:03 AM
Last modification on : Tuesday, February 12, 2019 - 3:32:03 PM
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Elizabeth Kathryn Bancroft, Imogen Locke, Audrey T Ardern-Jones, Lucia d'Mello, Kate Mcreynolds, et al.. THE CARRIER CLINIC: AN EVALUATION OF A NOVEL CLINIC DEDICATED TO THE FOLLOW UP OF BRCA1 AND BRCA2 CARRIERS; IMPLICATIONS FOR ONCOGENETICS PRACTICE.. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (7), pp.486. ⟨10.1136/jmg.2009.072728⟩. ⟨hal-00557372⟩

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