By Thomas Vaughan, M.D.
The old saying, “What you don’t know can’t hurt you” may be true for some things, but when applied to your health it may be a dangerous choice. Today we are fortunate to have more and more choices about health screening that may provide opportunities for prevention and/or early detection of health problems that if not detected, could have serious consequences.
One of the newer areas of health screening is genetic screening for hereditary cancer syndromes. Hereditary cancer risk assessment is the key to identifying patients and families who may be at increased risk of developing certain types of cancer. Hereditary cancer screening begins with a personal cancer history and a cancer history of first and second degree relatives that includes the type of cancer , the age of onset, and the lineage (paternal versus maternal) of the family member affected.
Red flags for hereditary cancer may include patients with a personal or family history of :
(1) Multiple cancers—a combination of cancers on the same side of the family
(2) Young or Early cancers—cancers occurring in patients or family members at 50 y/o or less
(3) Rare cancers-unusual cancers including: ovarian cancer, male breast cancer, triple negative breast cancer, colorectal cancer with abnormal MSI/IHC, MSI associated histology, endometrial cancer with abnormal MSI/IHC, 10 or more GI polyps.
The most common hereditary cancer syndromes related to gynecological cancer include hereditary breast and ovarian cancer syndrome (HBOC) with BRCA 1 or 2 mutations, Lynch syndrome (increased risk for colon, endometrial and ovarian cancer), Li-Fraumeni syndrome, Cowden syndrome, and Peutz-Jeghers syndrome.
If you have red flags for familial cancer or hereditary cancer risk, further evaluation with genetic counseling and/or possible genetic testing should be considered. If you have a strong family history of cancer or if you have a positive genetic screening test then you have the options to consider: increased surveillance, chemo-prevention, and possible risk reducing surgery.
All the above being said, we know that genetic testing is not a choice that everyone would choose. For a variety of personal reasons, some would choose not to have testing. It is your choice to make, but genetic screening could impact not only your health but also that of other family members, including your children. Most of the family cancer syndromes are inherited in an autosomal dominant manner, meaning children have a 50/50 chance of inheriting the mutation from the affected parent. The mutations affect both male or female children.
If you have questions, please discuss them with us—we are here to help you and would like to assist you in any way we can in making your personal decision. The results of genetic cancer screening could give you the information you need to make very important decisions regarding your health and cancer risk reduction. We encourage you to be proactive in your health—prevention is always better than treatment.