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Introduction to CYP2D6 and CYP2D6 testing

Pharmacogenetic testing and the use of testing in clinical practice is a relatively new, evolving and complex topic. This short summary provides an introduction to the basic concepts that need to be considered in relation to cytochrome P450 2D6 (CYP2D6) and CYP2D6 testing.

Assessment of clinical effectiveness

Evidence for the clinical effectiveness of genotyping for CYP2D6 for the management of women with breast cancer was assessed by conducting a systematic review of published research evidence. The review was undertaken following the general principles published in the Centre for Reviews and Dissemination's guidance for undertaking reviews in health care.


Breast cancer is the most common cancer affecting women in the UK. In England and Wales, in 2007, around 45,000 new cases of breast cancer were diagnosed and there were nearly 11,000 deaths due to breast cancer. Breast cancer incidence rates increase with age; around 80% of breast cancers occur in women aged > 50 years, and women have a one in nine lifetime risk of developing breast cancer. Breast cancer prevalence is around 172,000 women in the UK according to the most recently published data. This relatively high prevalence rate has been attributed to high incidence rates combined with 5-year survival rates of > 75%.

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