• Intro

    Some genetic changes are harmless. These changes (or alterations) may be the causes of people having different eye color or different hair color. None of these differences impacts our health. However, if the genetic alteration is a mutation, it can be the cause of health problems such as an increased risk to develop cancer. When people have a mutation in a gene whose function is to protect the body from cancer, the gene may no longer work like it should. This may cause someone to have an increased chance to develop cancers, usually at younger ages than expected. These cancers are often part of what are called hereditary cancer syndromes. There is a whole specialty in medicine devoted to treating, preventing, and understanding of hereditary cancer syndromes.

    You may be wondering about how gene mutations occur in a family. We are learning more and more about the causes of the gene mutations every day. It’s not always clear why some people carry these and others do not. In families with hereditary cancer syndromes, which may be yours, many relatives may carry the same gene mutation, and have similar cancers develop at similar ages.

  • How do we find genetic alterations/mutations?

    In the past, genetic testing laboratories have been able to find genetic mutations in families by studying the most likely genes, one at a time, through genetic testing. This often resulted in a costly and time-consuming process for the patient and healthcare provider. Multi-gene “panel” testing is now available, in which many genes associated with hereditary cancer syndromes are tested at once, to provide the patient and family the answer in a more timely and cost-efficient manner.

    Multi-gene panel testing allows healthcare providers to better treat and manage their patient’s health by helping them understand the underlying genetic cause of the cancers in a patient and/or family. The human body is a complex system and there is still so much to understand. As researchers and doctors continue to learn more about the human body, we will also learn more about how to create better treatments and cures for hereditary cancer syndromes.