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How does a diagnosis of colon cancer affect other people in the family?
In general, people who have a first-degree relative (parent, brother, sister, or child) with colorectal cancer are at higher risk to get the disease themselves. In most cases, this risk ranges from 9% to 15% by age 79, depending on the age of the colorectal cancer diagnosis in the family. This is compared to a 4% risk for someone with no family history of the disease. If someone has more than one first-degree relative with colorectal cancer, their risk is likely even higher.

However, if there is a hereditary colorectal cancer syndrome in the family, cancer risks are very different. It is estimated that 5-10% of all colorectal cancer cases are due to one of these inherited syndromes. In families who have a hereditary colorectal cancer syndrome, relatives may be at very high risk for colorectal cancer (i.e. up to 80% chance to develop the disease) and may also be at high risk for other types of cancer (endometrial/uterine, ovarian, stomach, and other cancers can be involved). It is important to identify families who have these syndromes because the cancer risks can be significantly decreased by proper screening and medical management. These screening and medical management options are specific for hereditary colorectal cancer syndromes and, most likely, would not be recommended otherwise. They include, for example, annual colonoscopies, starting as early as the late teens/early 20’s versus having colonoscopies every 10 years, starting at age 50.

What are the signs of a hereditary colorectal cancer syndrome?
The following are “red flags” for hereditary colorectal cancer, whether they appear in you and/or in a relative:

Cancer diagnosed prior to age 50, especially colorectal or endometrial/uterine
Colorectal cancer and numerous colorectal pre-cancerous polyps (“adenomas”)
2 or more family members with the same type or related types of cancer**
2 or more of the same type or related type of cancers** in a patient

**Related types of cancer include: colorectal, endometrial/uterine, ovarian, and stomach

Why is it important to know about a hereditary colorectal cancer syndrome in the family?
If a hereditary colorectal cancer syndrome exists in a family, certain relatives who inherited the syndrome will be at a very high risk for colorectal and, in some cases, other cancers. It is important to identify these individuals so that they can have earlier and more frequent screening for cancer. Additionally, there are other medical management options available to them that wouldn’t be recommended otherwise. These additional measures can significantly decrease their risk of getting cancer. For these individuals, knowing about the hereditary syndrome is truly preventive. It makes them aware of their cancer risks and allows them to do something to prevent cancer from happening to them.

Even if your family has a hereditary colorectal cancer syndrome, there will be some family members who did not inherit the gene mutation causing high cancer risk in the family. These individuals are at average risk for cancer and usually do not need additional screening. It is equally as important to identify these relatives so that they can be saved from unnecessary medical procedures.

How are hereditary colorectal cancer syndromes diagnosed?
In most cases, there are specific known genes that are responsible for hereditary colorectal cancer syndromes. Laboratory tests are available to look for mutations in these genes. They usually require a blood draw. It’s best to start the genetic testing in an affected member of the family, if possible (i.e. someone who has been diagnosed with cancer or colorectal polyps). However, there are other ways of doing genetic testing in unaffected members of the family and, in some cases, additional studies may be done on tumor tissue from an affected relative.

A cancer genetic counselor is a healthcare provider who can guide you and your family in your genetic testing decisions. These professionals will evaluate your family history, discuss options for genetic testing, and explain the benefits and limitations of this type of testing. They will also help with interpreting any genetic test results and making subsequent recommendations for screening and medical management.

How do I find a cancer genetic counselor?
Visit our partner (Informed Medical Decisions, Inc.) website at www.informeddna.com to learn more about their telephone cancer genetic counseling services.

You can also visit www.nsgc.org to locate a cancer genetic counselor in your area (click on “Find a Counselor” in the list of “Quick Links” on the left side of the page).

Are there other reasons to consider cancer genetic counseling?
Anyone who has concerns about how their personal and family history of cancer affects them or their relatives should consider cancer genetic counseling. There are other hereditary cancer syndromes aside from those related specifically to colorectal cancer. Hallmarks of these syndromes include:

Breast cancer diagnosed prior to age 50
2 or more family members with the same type or related types of cancer**
2 or more of the same type or related type of cancers** in a patient
A combination of Ashkenazi Jewish ancestry and breast, ovarian, or pancreatic cancer at any age

Are genetic counseling and genetic testing covered by insurance?
In most cases, both are covered by insurance companies. A genetic counselor’s fee and their ability to bill insurance will vary. Genetic testing coverage will vary by insurance company. Most often, your genetic counselor and/or the genetic testing laboratory can provide you with details on your particular plan and coverage for genetic testing.

Should I be concerned about genetic discrimination if I go see a genetic counselor and/or have genetic testing?
It is against federal and state laws for health insurance companies to discriminate against a person based solely on results from genetic testing. To date, hundreds of thousands of genetic tests for hereditary cancer syndromes have been done. Studies have found no documented cases of health insurance discrimination based on this type of genetic testing. In most cases, the benefits that come from knowing the results of genetic testing far outweigh the small risk of this type of discrimination.

Where can I find more detailed information about hereditary colorectal cancer syndromes?