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Inherited Cancers-Reduce Your Risk!

Scene: Thanksgiving dinner 2005.

"What? Aunt Marion has ovarian cancer? She just made it to her fifth anniversary free of breast cancer! How is this possible? She has three girls in college! And uncle Mark's sister Joan had colon and uterine cancer. The girls must be so worried about their risk for cancer. What can they do?"

Is this a conversation that sounds even a little bit familiar? Cancer is a very serious and scary disease for most people. Not everyone talks about it openly. Just a few years ago people were still whispering the word cancer. Why does cancer affect some people and not others? Why are some families more likely to have multiple affected relatives? Why do some people get cancer more than once?

We all have genes that protect us from uncontrolled growth of our cells. These genes come in pairs, one inherited from each parent. Generally, only one of the genes has to be working to prevent uncontrolled cell growth. But, when both copies of a single cell are not working, cell growth goes unchecked, and cancer develops.

We all have a chance of getting some type of cancer - if we live long enough. Normally, several genes are involved in maintaining our cells and protecting us from uncontrolled cell growth. These genes come in pairs; one gene is inherited from each parent. Damage to individual genes occurs in all of us, on a regular basis. Cells are generally able to repair this damage, but every now and then environmental factors such as radiation, chemical exposure, and oxidants, or DNA maintenance errors cause permanent damage to one of the protective genes in a given cell. Generally, only one copy of a protective gene has to be working to prevent uncontrolled cell growth. But, when both copies in a single cell are not working, cell growth goes unchecked, and cancer can develop.

Ninety percent of all cancers are sporadic, meaning they happen by chance. In the other 10% of cases, the affected person has inherited (from one parent) a change in a gene important for the prevention of cancer. In this case, the change (also called a mutation) is found in every cell of the body. People who have inherited one gene change in every cell are more likely to be affected with cancer earlier in life. This occurs when a "second hit" damages the single remaining normal cancer protection gene, causing loss of cell regulation and tumor growth.

There are several cancer susceptibility syndromes that predispose individuals and their family members to specific types of cancers. The association of different types of cancers within a family helps doctors determine which gene may be changed (mutated). The table below describes the most common cancer susceptibility syndromes, their causative genes, and the most common cancers seen in each syndrome:

Aunt Marion above may have inherited a mutation in one of the genes that would normally protect her from breast and ovarian cancer. She may therefore have a 50-80% risk of breast cancer and 20-40% risk of ovarian cancer before age 70. Marion could benefit from genetic counseling and testing for a change in BRCA 1 or 2. If Marion does have a mutation, her girls could be counseled and tested for the same mutation. If her daughters test positive they would be advised to get mammograms or MRIs starting at age 25 to detect breast cancer at its earliest stage. They may chose to remove their ovaries after completing childbearing - to greatly reduce their risk of getting ovarian cancer. Male relatives who test positive may benefit from breast exams and annual prostate exams. Those family members who tested negative could be reassured that they have no increased risk for cancer over that of the general population. Marion may have been spared her battle with ovarian cancer if knew earlier in life that she had a cancer predisposition syndrome.

Uncle Mark is over 50 and has been putting off having a screening colonoscopy. He is worried about the day of diarrhea that precedes the testing. He is nervous about his personal loss of control when sedated. His sister, Joan, was referred for genetic testing and was found to have a change in one the genes responsible for her colon and uterus cancer. She was not sure how to share this information with the rest of her family. Mark has a 50% chance of carrying this same gene mutation that gave his sister an 80% risk of colon cancer and 60% risk of uterine cancer by age 70. If he knew this, maybe he would agree to get his screening colonoscopy and pursue genetic counseling and testing. If he tests positive for this familial mutation, his girls could also get tested. If they were found to test positive, his girls would be advised get their colonoscopies earlier in life and may chose to remove their uteruses and ovaries after child bearing. If Mark tests negative for the familial mutation, he and his girls would know that they have no increased risk for cancer over that of the general population.

If one of your relatives has had several types of cancer, or if certain cancers run in your family, you should speak to your physician about genetic counseling and testing for a cancer susceptibility syndrome. Sure, we all have some risk of getting cancer eventually, but why take chances when there are preventative measures such as screening tests and prophylactic surgeries that can greatly reduce your risk of being diagnosed with an advanced stage of cancer? The only way to find out your risk is to ask someone who knows. Please be good to yourself and your family. Confront your past and look to your future. Reduce your risk!

About Tufts-New England Medical Center
Tufts-New England Medical Center is a world-class academic medical institution that is home to both a full-service hospital for adults and the Floating Hospital for Children. It has long been recognized as a leader in cancer care, cardiology, organ transplantation, neurosciences and pediatrics. Founded in 1796 as the Boston Dispensary to care for sick and needy Bostonians, Tufts-NEMC is the oldest health care facility in New England. The Medical Center is the principal teaching hospital for Tufts University School of Medicine. The Floating Hospital for Children, Tufts-NEMC's full-service children's hospital, began as a hospital ship more than a century ago. The 128-bed Floating Hospital provides comprehensive inpatient and outpatient services in every area of medical specialization. The Genetics Division's Family Center for Genetic Medicine offers counseling, screening, and treatment for genetic diseases at the Medical Center's adult and pediatric hospitals, providing coordination and continuity of care for all family members -- pre-conception, prenatal, newborn, child, adolescent, and adult. The Cancer Prevention Program is a new initiative providing state-of-the-art care including genetic, nutrition, and lifestyle counseling for people at increased risk for cancer. For more information on Tufts-NEMC access our web site, https://www.tuftsmedicalcenter.org/ .

 

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