Epidemiology and Pharmacogenetics

Joint Effects of Genetic Factors, Hormones and Lifestyle in Relation to Breast Cancer: Implications for Risk, Treatment Response and Prognosis

Introduction

More than 7 000 women are diagnosed with breast cancer annually. Ten percent of all breast cancers are familial.

Deleterious mutations have been identified in several genes, most notably BRCA1/2. Up to 80 % of female mutation carriers develop breast cancer. Little is known about the normal function of these genes, and how breast cancer risk is modified by hormones, alterations in hormone metabolism and polymorphisms in low-penetrance genes.

Moreover, up to 70 % of all breast cancer patients receive adjuvant therapy unnecessarily. These patients are either already cured by surgery or the medications they receive do not work as intended.

Certain polymorphic variants are implicated in 20 % of inter-individual variability in drug metabolism; hormones, growth factors and lifestyle also influence drug response and prognosis, but are currently not used for selection of therapy.

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