A PRS FOR BREAST CANCER
Breast Cancer
Breast cancer is a pervasive and complex disease that touches the lives of countless individuals worldwide. It remains a significant global health concern, representing a profound burden not only for those diagnosed but also for their families and healthcare systems.
The disease is characterized by the uncontrolled growth of cells in the breast tissue. It is one of the most diagnosed cancers globally, with about 2.3 million new cases and 685,000 deaths each year.
The multifactorial nature of Breast Cancer
The development of breast cancer is not a simple, linear process. Rather, it is a multifactorial condition influenced by an intricate interplay of genetic, environmental, and lifestyle factors. This multifaceted nature underscores the need for a comprehensive approach to risk assessment and prevention.
Environmental risk factors
Beyond genetics, lifestyle choices play a pivotal role in breast cancer risk. Factors such as diet, physical activity, alcohol consumption, and exposure to environmental toxins can either increase or decrease the likelihood of developing the disease. This dimension of risk reduction is a vital component of our exploration, emphasizing the agency individuals possess in mitigating their susceptibility to breast cancer.
Genetic risk factors
Breast cancer susceptibility is influenced by both rare monogenic mutations and more common polygenic risk factors. While monogenic mutations, such as those in the BRCA1 and BRCA2 genes, are known to substantially increase risk, it is becoming increasingly clear that the collective impact of numerous common genetic variants, known as polygenic factors, plays a comparable significant role in disease risk. Understanding this duality in genetic causation and integrating a PRS into risk assessments is key to comprehensively assessing an individual's predisposition.
Polygenic Breast Cancer Risk Assessment using a PRS
PRSs offer an advanced approach to evaluating individual breast cancer risk, aiding in more precise guidance for a patient's medical care. Individuals with an elevated PRS stand to benefit from increased breast cancer monitoring, potentially including annual breast MRI alongside mammography. Although current national consensus guidelines don't formally include PRS testing estimates in medical management recommendations, clinicians have the discretion to consider PRS alongside personal risk factors and family history when formulating a patient's breast cancer surveillance and risk management strategy.
Moreover, beyond enhancing risk evaluation, PRS has the capacity to elucidate the genetic underpinnings of diseases in patients who tested negative for monogenic causative mutations.