Understanding Cancer Gene Mutations
In recent years, more and more diseases have been associated with gene mutations. Amongst the earliest ones associated with breast and ovarian cancer are BRCA 1 and 2, identified in the early 1990’s. Since then, there have been many others linked to different cancers, some of which may also further increase the risk of breast and ovarian cancer. These include the Lynch Syndrome genes, CHEK2, PALB2, ATM, and more.
While it may seem that only women are at risk, it is important to note that both men and women who carry gene mutations are at risk, including breast cancer in men. Some of these genes increase the risk of colon or pancreatic cancer, thus potentially affecting men and women. Others are associated with prostate cancer.
For this reason, knowing your family history from both the maternal and paternal sides is important. Testing for a genetic mutation can be anxiety provoking. “What if” is on replay as you await results. How will this affect me? How will a positive test affect my children? At what age should I test my children? I have not children yet. Will this prevent me from having a biological child? Can I prevent passing the mutation on to my kids?
crucial first steps after a cancer diagnosis
You can view having a genetic mutation in two ways: In a negative way because it increases risk of certain cancers, or in a positive way because now you can be proactive about it. The same applies to your siblings, parents, or children. Knowledge is control. If you already had a cancer and then found out there was a genetic mutation that likely led to it, you know how important it would have been to know before the cancer. It may have been averted or picked up earlier. Knowing this helps you help your family members to be proactive as well.
You may have already suspected there was “something in the family”, based on the recurring cancers in family members, but not all are linked to heredity. It is important to give as thorough a family history as possible to your doctors who may recommend genetic counseling and testing. If you can, keep a running pedigree of family members-as many generations as you can access reliably -you’ll want to know the types of cancers, the ages at diagnosis, and whether any genetics were done.
Despite so many genetic mutations being identified, most cancers are still sporadic which means they happen by chance. While we may be able to act on mutations, it is important to remember that cancer is not always genetic. It is also important to understand that prevention or early detection are the ideal outcomes of getting a genetic test or undergoing screening, but it is not foolproof. Some people still get cancer despite undergoing screening or preventative surgery. It is important to note that there are ways to help decrease the risk of cancer. Exercise, weight control, not smoking and limiting alcohol intake are amongst the lifestyle factors that can impact cancer risk regardless of a mutation.
