Skip to Main Content

++

INTRODUCTION

++

The prevention of disease has become an increasingly important focus in the past two decades for patients, their health care providers, and insurers.1-3 Worldwide, scientists and population health experts are uncovering the impact that genetics and the environment, individually and in combination, have on the development of particular diseases. Heart disease has historically been the leading cause of death in the United States and remains a focus for primary prevention through pharmacologic (aspirin, statins) and lifestyle interventions (tobacco cessation, weight loss, diet modification).4,5 Cancer however was a “close second” as a cause for death in the United States in 2010 and is expected to surpass heart disease as the primary cause for mortality in the next decade.6 Cancer prevention, therefore is positioned to become an important adjunct to primary cancer therapy.

++

The use of surgery for disease prevention and for oncologic disease prevention in particular is less common than medical or lifestyle interventions. For those with a known genetic aberration that can cause a future malignancy, surgery can be used to reduce the incidence of colon cancer in patients with familial adenomatous polyposis, the incidence of thyroid cancer in patients with multiple endocrine neoplasia, and the incidence of breast cancer in patients with BRCA1 and 2 and other high-risk genetic mutations.7,8 The latter is expected to increase in utilization, over the next 5 to 10 years based on a number of influential factors, including increased public awareness, and availability of genetic testing and reconstruction options.9-11 For breast cancer prevention, there are two surgical options that are utilized: ovarian removal in the pre- or perimenopausal setting which provides an estimated 50% reduction in the development of breast cancer, and prophylactic mastectomy which provides an estimated 90% reduction in risk.12 For those individuals who want to avoid or postpone prophylactic surgery, however, medical and lifestyle modification interventions offer an alternative approach for breast cancer risk reduction.

++

Foremost in a discussion on surgical or nonsurgical breast cancer risk reduction is defining the population at risk. Determining future breast cancer risk requires consideration of both genetic and nongenetic factors. Individuals who have inherited mutations in highly penetrant breast cancer susceptibility genes, such as BRCA1 and 2, PALB2 and PTEN (65% to 85% lifetime risk), CDH1, STK11 (35% to 50% lifetime risk), and others that are less penetrant such as CHEK and p16 have the greatest future breast cancer risk.13-15 Some women with extensive family histories of breast cancer will test negative for a known genetic mutation and yet remain at high risk for the future development of breast cancer. Utilization of genetic models such as BRCAPRO and the Claus model may help determine the estimated percentage lifetime risk of a breast malignancy for these individuals.16,17 For women without a suspected mutation, the Gail model is the most commonly used general ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.