Digestive Trac • July 2015

NON-PROFIT U.S. POSTAGE PAID SIOUX FALLS, SD PERMIT NO. 7010

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605-322-7797 To learn more, visit our website at AveraDigestiveDisease.org

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What Happens Next?

After a Confirmed Diagnosis of Lynch Syndrome Genetic Counselor: A Resource to Help Patients Understand All Aspects of Testing Lynch Syndrome Screening: An Investment in Early Detection and Prevention

INSIDE THIS ISSUE: DIGESTIVE DISEASES • JULY 2015

DigestiveTrac

FACTS AND STATS

Lynch Syndrome and Increased Cancer Risk

In 1966, Henry T. Lynch, MD, and his colleagues described familial aggregation of colorectal cancer with stomach and endometrial tumors in two extended families and named it cancer family syndrome. More recently, this condition is known as both Lynch syndrome and hereditary nonpolyposis colorectal cancer (HNPCC).

• 150,000 people in the United States • 3 percent of colorectal cancer cases • 20-80% lifetime risk of developing colorectal cancer by age 70

- Compared to average lifetime risk of 5.5%

- Average age of diagnosis is 45, compared to 72 for sporadic colorectal cancer

• Increased risk of developing a second colon cancer: 16% within 10 years; 41% within 20 years; 62% after 30 years • 15-60% risk of endometrial cancer by age 70, compared with 2-3% risk of general population • 4-24% lifetime risk of ovarian cancer, compared to 1-2% of general population • 10% lifetime risk of stomach cancer, compared with 1% risk of general population • Elevated risk for cancer of the small intestine, hepatobiliary tract, brain, kidney, bladder, ureter and skin

Sources: Cleveland Clinic, Genomic Medicine Institute; Medscape; National Comprehensive Cancer Network (NCCN)

GENETIC COUNSELOR

A Resource to Help Patients Understand All Aspects of Testing

When immunohistochemistry screening indicates the possibility of Lynch syndrome, a certified genetic counselor works with families to correlate their pathology with family history.

- Kayla York, MS, LCGC Certified Genetic Counselor

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I walk patients through what it would mean if they do carry Lynch syndrome, and the proactive steps they can take to prevent cancer.

Many factors go into the decision to have genetic testing. One is expense and whether or not genetic tests will be covered. More and more, insurers are covering the cost of the test as well as the increased screening and preventive surgery after a Lynch syndrome diagnosis, recognizing that it’s much less costly than treating cancer.

There are also patients who fear that a positive result will impact eligibility for insurance or employment. The federal Genetic Information Nondiscrimination Act (GINA) protects patients in terms of health insurance and employment. However, life insurance has not caught up to this level of protection in many states, including South Dakota, so patients are advised to check into their life insurance before undergoing genetic testing.

There are also psychological and emotional issues. “For some people, knowing the results would cause more anxiety. Genetic counseling, up front, helps patients understand all aspects of genetic testing so they can make an informed, educated decision and use that information to their best advantage,” York said.

Contact Avera DDI through our Navigator: Liz Harden, CNP 605-322-7334 elizabeth.harden@avera.org

WHAT HAPPENS NEXT? After a Confirmed Diagnosis of Lynch Syndrome

Avera Digestive Disease Multidisciplinary Team

If a genetic test is positive for Lynch syndrome, that patient is at higher risk for future colorectal cancer as well as other cancers. The patient’s first-degree relatives – siblings, children and parents – as well as more distant relatives can also consider testing to learn if they are at higher risk.

Lynch syndrome is not an inherited cancer – it’s an inherited predisposition to cancer.

Most commonly, colonoscopies are recommended every one to two years, beginning at an earlier age.

• For people who test positive for MLH1, MSH2 and EPCAM gene mutations, colon screening is recommended beginning at age 20 to 25.

• Those identified with the lower risk MSH6 and PMS2 genes can begin at age 25 to 30 or earlier depending on their family history.

For women who have Lynch syndrome, a common recommendation is hysterectomy after they are done with childbearing due to the risk for endometrial cancer.

Increased screening and prevention recommendations are discussed during genetic counseling, and patients are encouraged to share this information with their primary care providers.

PATHOLOGY All cases of colorectal and

Avera Digestive Disease Institute brings together a multidisciplinary team to address cancer and other serious conditions of the digestive tract, all working toward the goal of seamless care and best possible outcomes. In the case of Lynch syndrome, genetic counseling and testing, as well as frequent colorectal screenings are important components.

GENETICS Genetic counseling helps patients understand all aspects of genetic testing, helping them to come to an informed decision. What would it mean to be a carrier of Lynch syndrome? What would it

endometrial adenocarcinoma at Avera Cancer Institute Sioux Falls receive universal immunohistochemistry (IHC) screening for Lynch syndrome. Abnormal results are referred for genetic testing.

mean for their family?

GASTROENTEROLOGY Be A Survivor Learn more about successfully dealing with a colorectal cancer diagnosis. BeASurvivorAveraColon.com

People with Lynch syndrome tend to develop colon polyps that are more difficult to detect. Avera gastroenterologists offer advanced expertise and technology in colonoscopy screening to help Lynch syndrome patients be proactive in preventing cancer.

LYNCH SYNDROME SCREENING An Investment in Early Detection and Prevention

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Not only is testing a long-term investment that pays off in saved costs of treating cancer, it saves lives.

- Raed Sulaiman, MD Board-Certified Pathologist

Current genetic testing has brought us to the point of asking patients and their families a question that many choose to face head on, while others want to ignore: “If you are at higher risk of developing cancer, would you want to know?”

IHC staining indicates whether certain proteins are present in the tissue. If proteins are missing, it may indicate a malfunction or mutation of one of the five genes involved with Lynch syndrome.

Testing available for Lynch syndrome is one such case. While only comprising 3 percent of colorectal cancer cases, Lynch syndrome can indicate a higher lifetime cancer risk of up to 80 percent. Yet families with Lynch syndrome who follow increased screening protocols reduce their incidence of colorectal cancer by up to 60 percent.

Just recently, a similar universal pathway was instituted for all cases of endometrial adenocarcinoma at Avera Cancer Institute Sioux Falls. “There is overlap in some families, and some women present with endometrial cancer first. Lynch syndrome testing lets them know if they are also at higher risk for future colorectal cancer,” Sulaiman said.

Two years ago, Avera Digestive Disease Institute began universally screening every colon resection containing adenocarcinoma. The immunohistochemistry (IHC) screen flags a possible genetic mutation in about 20 percent of tests. While a much smaller percentage actually prove to be Lynch syndrome through genetic testing, a positive IHC screen might offer prognostic clues as to how the cancer might act, or most effectively be treated.

The National Comprehensive Cancer Network (NCCN) now recommends universal screening for Lynch syndrome, stepping up former recommendations that patients be tested only if they meet criteria based on family history. Yet a significant percentage of patients with Lynch syndrome don’t meet the family history criteria called Amsterdam II and Bethesda.

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IHC screening simply raises the “red flag” that Lynch syndrome could be present. It narrows down the need for genetic testing, which is more expensive and can help focus the genetic testing to specific genes.

When presented with the option of genetic testing, patients or family members often ask, “why would I have this testing done?” The answer is the opportunity to mitigate their risk in advance with the support of a specialized team.

To learn more, visit our website at AveraDigestiveDisease.org