Genetic Factors for Breast Cancer Susceptibility and Clinical Outcome

Breast cancer is the second leading cause of deaths by cancers worldwide. The incidence of breast cancer is rising in most countries, while survival of patients with breast cancer has improved. To facilitate early detection of breast cancer, it is necessary to improve risk prediction models that are useful for early detection of breast cancer by identification of novel breast cancer risk genes/alleles. In our studies, two recurrent HOXB13 mutations in the Dutch population and NBS1 rs2735383 in the European and Asian populations were not associated with increased breast cancer risk. Furthermore, to improve personalized treatment it is necessary to discover new prognostic and predictive biomarkers for breast cancer. We found that the 29.5 kb APOBEC3B deletion polymorphism was neither a prognostic nor a predictive biomarker for breast cancer. Furthermore, GATA3 mRNA expression, but not GATA3 mutation, is an independent predictor for first-line tamoxifen therapy. Lager studies for validation and more studies to understand the mechanisms are necessary in the future.

• View at Worldcat

Free Full Text ( Final Version , 4mb )