BY Jonathan Terdiman, MD, co-director of the Center for Inflammatory Bowel Disease and the Colorectal Cancer Prevention Program at the University of California, San Francisco (UCSF) Medical Center

Background

Colon cancer is the second-leading cause of cancer death in the country and affects women and men in roughly equal numbers. One in 20 people, or about 5 percent, will be diagnosed with colon cancer. For women it’s the third-leading cause of cancer death after lung cancer and breast cancer.

The good news is that colon cancer is very preventable, unlike many other cancers, through appropriate screening. There is a variety of screening tests available, including colonoscopy, which, when applied at age 50 and repeated every 10 years, has the ability to reduce colon cancer deaths by roughly 50 to 90 percent.

When a person is diagnosed with colon cancer, a sample of the tumor can be evaluated to determine if the cancer is hereditary. If a patient is found to have hereditary colon cancer, this information can be passed along to other family members, which can save lives. Here, Dr. Terdiman provides more information about hereditary colon cancer and the lifesaving impact of genetic testing.

What is hereditary colon cancer?

Hereditary colon cancer is colon cancer that develops as a result of an inherited genetic mutation. There are different types of hereditary colon cancer, but, in general, people who have hereditary colon cancer have a genetic change or mutation that puts them at an increased risk of colon cancer.

The most common type of hereditary colon cancer is Lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC). Five percent of colon cancers fall under Lynch syndrome; 1 in 300 to 400 people has the condition. In Lynch syndrome the risk of cancer is very high; lifetime risk is more than 50 percent, and cancers often occur at a younger age—many occurring before age 40 and even before age 30.

In addition, women with lynch syndrome have a 50 percent or higher risk of uterine cancer and a four- to fivefold increased risk of ovarian cancer. Those with Lynch syndrome are also at higher risk of cancer of the liver, pancreas, skin, stomach, and urinary tract.

How do you know if you have hereditary colon cancer?

The tip-off for hereditary colon cancer is often family history of the disease but not always. Sometimes there can be a hereditary colon cancer without a striking or obvious family history because sometimes the first person in the family to have the hereditary colon cancer is the first person with cancer in the family—it starts somewhere—and nowadays families are small and people don’t always know family history.

Certainly, if there’s a family history of colon, uterine, or ovarian cancer, that’s a tip-off. But because family history is sometimes hidden and Lynch syndrome is so common, it should be considered in anyone diagnosed with colon cancer—especially if those cancers are occurring at a younger age, even if there is no family history.

We’ve realized that if we limit consideration of Lynch to patients who have a classic family history, we’re probably seeing only one-third to half of Lynch syndrome cases. Research studies have shown that every case of colon cancer should be evaluated for Lynch syndrome. Now many centers have adopted a universal testing approach so that every colon cancer case and every uterine cancer case is evaluated for Lynch syndrome. That approach is cost-effective and results in saving the most lives.

The reason why it is important to identify hereditary colon cancer is simple: when you identify someone who has had cancer and is a Lynch patient, you can go to all of the other members of that person’s family and figure out if they too have Lynch syndrome—that’s the key to saving lives.

If someone is found to have hereditary colon cancer, how will prevention or treatment be different for that person and any family members who are found to carry the genetic mutation?

When a patient is determined, through genetic testing, to have Lynch syndrome, other family members should be notified so that they can be tested to see if they also carry the mutation. This topic can be sensitive, but distributing this information can save lives. As a first step, seek the help of a genetics professional. Most hospitals have genetic counselors who are familiar with cancer genetics and can help patients navigate this process.

If a person who already has cancer is diagnosed with Lynch syndrome, there may be some different or additional treatment measures, so there is some benefit to the patient, but the bigger benefit is to all the relatives who don’t have cancer who benefit from increased screening.

If people who do not already have cancer are determined to have Lynch syndrome, they embark on increased prevention techniques and screening measures, which reduces the likelihood that they will get cancer.

Screening recommendations for someone diagnosed with Lynch syndrome include the following:

Colonoscopy screening beginning at age 20 to 25 and continuing every one to two years. That reduces colon cancer mortality by 60 to 80 percent in those patients. Often with hereditary colon cancer, cancer occurs at a younger age, so if you wait to screen at age 50, that can be too late.

Daily aspirin. We now know that if people with Lynch syndrome take aspirin daily, it reduces the cancer rate by half—for all types of cancer associated with the mutation. We don’t recommend this for people at average risk.

Regular uterine and ovarian cancer screening for women with Lynch syndrome starting at age 30. Some women also consider prophylactic surgery to prevent uterine and ovarian cancer; those techniques have also been proven to reduce cancer rates and death rates significantly.

Patients diagnosed with Lynch syndrome often face a difficult challenge: sharing news of the complex diagnosis with family members. And yet it is a critical conversation because knowledge of the potential for the hereditary condition can lead to screening and early detection, which saves lives.

Up to this point, the standard protocol for alerting family members when someone has undergone genetic testing and has been diagnosed with Lynch syndrome through the Hereditary Gastrointestinal Cancer Prevention Program at UCSF—as at other major cancer centers—has been to send a letter describing the hereditary condition and encouraging family members to visit a genetic counselor. Now UCSF hopes to modernize the process and make the information more accessible to families through its new KinTalk social network.

“We were motivated to develop KinTalk for Lynch syndrome because we understand that sharing genetic risk info is difficult and that the information was not always being shared. This is partially due to the lack of recognition and comprehension of the diagnosis by clinicians and families,” says Megan Myers, MS, genetic counselor at the Hereditary Gastrointestinal Cancer Prevention Program at UCSF. “We wanted to create a web-based tool that allows patients to share cancer risk information directly with their relatives via a secure website.”

The new platform allows patients to send family members a link to the site via e-mail, which enables them to log in and find comprehensive resources about Lynch syndrome and genetic counseling. The process takes some of the burden off the patient, who no longer has to explain the complicated diagnosis.

“It can be tough enough to give a family member bad news about being at risk for genetic predisposition to cancer,” Myers says, “but then to have to explain what Lynch syndrome is can be overwhelming and even paralyzing for a person. With the help of KinTalk, we hope that patients will feel comfortable and confident in securely sharing their genetic information with family members—and ultimately that those family members will be able to understand Lynch syndrome and know what their next steps are in terms of genetic testing and screening.”

For more information about Lynch syndrome and genetic testing, visit kintalk.org.

Ruth had survived numerous primary cancers, most of them life-threatening, when a new oncologist noted a pattern in her medical history and suggested that she investigate genetic testing. “Nobody in my mother’s huge family had ever had any kind of cancer, so I had not considered that possibility,” Ruth says, “but I knew absolutely nothing about the medical history on my father’s side, so it seemed a very good thing for me to do for my own health—and that of my two children.”

Ruth had genetic counseling and testing with the cancer risk counselors at UCSF. After attending an informational session and filling out a questionnaire, Ruth met with members of the research team and worked with them to provide both tissue samples from her previous cancer surgeries and blood samples. The results of Ruth’s testing confirmed that she had a mutation in a gene that causes Lynch syndrome, likely inherited from her father’s side of the family, which put her at an increased risk of developing certain types of cancer.

The information provided through genetic testing proved extremely valuable to Ruth’s family. Both of her young adult children underwent testing and subsequent cancer screening, which led to surgery for her daughter to remove of several precancerous growths. In addition, Ruth was able to provide information about her family’s history and potential for increased risk to her two half-siblings from her father’s earlier marriages who weren’t aware of their shared medical history. “I sent my brother all the information and the protocols, and within days he had started the tests he had been missing,” Ruth says. “Within a couple of weeks, he had surgery that saved his life.”

Having now seen firsthand the power of this valuable genetic information, Ruth hopes that other families will take action to uncover their own genetic legacies. “Knowledge, a plan, and speed have allowed me to enjoy being a grandmother,” she says. “I would have missed out on that were it not for those tests that got me into surgery fast. Cancer is not a death sentence if you find it in time, so being proactive on behalf of your own health makes total sense. Protecting anybody you can from finding it too late by something as simple as sharing genetic information is a blessing.”

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