Clinical genetics is a small but important component of patient care
Actress Angelina Jolie’s recent public disclosure of her BRCA1 gene mutation1 has highlighted the role of genetic testing in cancer prevention and management. Her endorsement of the genetic counselling and BRCA1 predictive testing process as helping her to be “empowered” and enabling “informed choices” to pursue preventive surgery has energised many people to actively participate in clinical decision making.
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- 1. Jolie A. My medical choice. New York Times 2013; 14 May. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html (accessed Oct 2013).
- 2. Parry S, Win AK, Parry B, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut 2011; 60: 950-957.
- 3. Nieuwenhuis MH, Mathus-Vliegen LM, Slors FJ, et al. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis. Clin Gastroenterol Hepatol 2007; 5: 374-378.
- 4. Kurian A, Sigal BM, Plevritis SK. Survival analysis of cancer reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol 2010; 28: 222-231.
- 5. Southey MC, Ramus SJ, Dowty JG, et al. Morphological predictors of BRCA1 germline mutations in young women with breast cancer. Br J Cancer 2011; 104: 903-909.
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