Did you know that less than 5 percent of cancer is hereditary i.e passed down through families? Most of it is sporadic and just occurs randomly. I am not sure if this is reassuring or scary. I am still deciding. I myself have had two cancers, none of which run in my family.

Let’s first talk about what a genetic cancer syndrome is. A genetic cancer syndrome is a condition that increases the risk of developing certain cancers and is passed down through generations of family members.

Here are some examples

Hereditary breast and ovarian cancer syndrome- this is self explanatory. It causes increased risk of breast and ovarian cancer and involves the BRACA1 and BRACA2 genes

Lynch Syndrome- this is a common cause of hereditary colon cancer, but can increase the risk of many other cancers as well

Li-Fraumeni syndrome- this increases the risk of breast cancer, bone cancer, brain tumors, and other soft tissue tumors

Cowden Syndrome- This increases the risk of noncancerous tumors, thyroie cancer, breast cancer, and uterine cancer

Familial adenomatous polyposis- This increases the risk of developing multiple colon polyps which can lead to colon cancer

Peutz-Jeghers syndrome- This increases the risk of cancer of the gi tract and other organs

Heredotary paraganglioma-pheochromocytoma syndrome- This increases the risk of development of benign tumors in the paraganglia. These are specific cells in the nervous system.

Von Hippel-Lindau disease- This is a rare condition that predisposes people to benign and malignant tumors especially in the central nervous system and retina.

Most of these are autosomal dominant inheritance. That means a single copy of the gene can predispose the individual to developing these cancers. Fortunately, these powerful mutations are actually on the rare side, but are very serious when they are present.

So, does it have to be an automatic death sentence to be diagnosed with one of these? No, it doesn’t have to be. Believe it or not, getting this news does not have to mean life is over. There are very specific screening protocols that can be instituted to prolong and save lives. But, you have to get the diagnosis established first to get started.

How do you get the diagnosis in the first place? Family and medical history screening is the first key element. There are significant screening questionnnaires that can be scored and scores above a certain level warrant genetic screening. The genetic screening can determine which genes are involved.

What kinds of things are we looking for in a family history? At the minimum, a personal history of cancer, a first and second degree relative history of cancer. You also have to evaluate the ethnicity of the patient. For example, Ashkenazi Jewish descent patients have a strong risk of genetic cancer syndromes. You need to look at the age of diagnosis as well. The earlier the cancer is diagnosed, the more the potential risk. Here are other things to look for

Cancer at a very young age or less than 50 for breast, ovarian or colon cancer

Several diff types of cancer in one person

Multiple primary tumors especially in the same organ

Several close blood relatives with the same kind of cancer

Unusual cancer presentation such as breast cancer in a male

All this is legitimately scary stuff, but the good news is that there are things we can do about it! There are prophylactic measures to take and altered screening protocols that can actually save and prolong lives. I have multiple patients in my own practice who have taken advantage of these protocols and are all still alive as their relatives continue to perish around them. My vote is to pay attention, get the information and take action. It could save your life!

Dr. Katz