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With Colorectal Cancer: Knowledge is Life-Saving

We support cancer research and awareness because the global burden is unacceptable.

In the U.S.

Colorectal cancer (CRC) is the third most common cancer diagnosis for both men and women.1

In 2022 there will be an estimated 150,000+ new CRC cases and over 50,000 deaths.1

CRC is predicted to become the leading cause of cancer-related deaths for ages 20–49 by 2030.2

Between 3–5% of all colon cancers are caused by the inherited condition, Lynch syndrome.3

Promega employees wear blue and join the fight against colorectal cancer

Promega employees across the globe wear blue to join the fight against colorectal cancer.

Surveillance and Early Detection Saves Lives

Despite its high incidence, colorectal cancer is unique in that it is one of the most preventable and, if found early, most treatable forms of cancer.

Local Stage

Cancer has grown into but not extended through colon wall.

Regional Stage

Cancer has spread through colon wall to nearby tissue or to nearby lymph nodes.

Distant Stage

Cancer has spread to other parts of the body.

Five Year Survival Rates Based on Disease Stage at Diagnosis4

Colorectal cancer survival rates

Lynch Syndrome and Inherited Colorectal Cancer

In some families, cancer occurs more often than expected. A family history of colorectal cancer can suggest a genetic factor. There are two genetic syndromes associated with colorectal cancer, Lynch syndrome and Familial Adenomatous Polyposis.

Lynch Syndrome

Lynch syndrome, or hereditary nonpolyposis colon cancer, is the most common form of hereditary colorectal cancer and causes roughly 3-5% of all colon cancers.3 Lynch syndrome is caused by autosomal dominant mutations to the major mismatch repair genes MLH1, MSH2, MSH6 or PMS2 as well as the EPCAM gene that inactivates MSH2. In addition to colorectal cancer, Lynch syndrome is associated with several other cancers including endometrial, ovarian and stomach cancer.

Familial Adenomatous Polyposis

Familial Adenomatous Polyposis (FAP) results from autosomal dominant mutations in the tumor suppressor gene, APC, and causes approximately 1% of all colon cancers. Most people develop multiple colon polyps by the age 39. If not detected and treated, these polyps will almost always develop into cancer. Typically FAP is diagnosed when your doctor finds a large number (>100) of colorectal polyps. Blood tests can be used to confirm the presence of mutations associated with FAP.5

Autosomal Dominant Inheritance Pattern

Autosomal dominant inheritance pattern

Do You Know Your Risk?

As many as 1 in 279 people might be carriers for the mutations associated with Lynch syndrome.6 A family history of an immediate family member (parent or sibling) or multiple family members with colorectal cancer or polyps puts you at an increased risk for the disease. Knowing your risk can help you and your healthcare professional make better, more informed decisions about your health before the onset of cancer or before a second cancer has had a chance to develop.

Why is it important to know your Lynch Status?

In addition to colorectal cancer, people with Lynch syndrome have an increased lifetime risk of developing certain other cancers. Because it is an inherited condition, family members might also have the condition.

“The worst part about Lynch is how many people don’t know they have it until they have cancer. If somewhere along the way it was tested…you know, a person could be spared.” – Carrie Ketcham, Lynch Syndrome Patient

Representative Lifetime Cancer Risk Comparison in the United States

lynch-cancer-risks-17316mc

*Value shown for males, lifetime risk for females is 4.1% (colon) and 0.66% (stomach).

How Is Lynch Syndrome Diagnosed?

To determine if Lynch syndrome is likely, simple screening tests can be performed on tumor (cancer) tissue. The two most common tests are microsatellite instability testing (MSI) and immunohistochemistry testing (IHC) for mismatch repair proteins (MMR). The results of these tests can indicate whether more specific genetic testing should be considered.

Lynch Syndrome and MSI

High microsatellite instability (MSI-H) in tumor tissue is a hallmark of Lynch syndrome. MSI-H status indicates that certain sections of DNA called microsatellites have become unstable because the major mismatch repair genes that correct errors during DNA replication are not functioning properly. A DNA analysis test is used to determine MSI status. The test is performed on both normal and tumor tissue. If the results for the tumor differ from the normal tissue results, the tumor is considered MSI-H.

In 2021, the FDA cleared the first PCR-based MSI IVD for aiding in Lynch syndrome diagnosis of CRC patients.

Lynch Syndrome and IHC

Immunohistochemistry is a screening test for Lynch syndrome tumors that looks for the proteins expressed by the mismatch repair (MMR) genes. If the genes are functioning properly, the proteins will be present. Absence of a mismatch repair protein increases the likelihood that Lynch syndrome is present.

Every Patient has a Story

Carrie Ketcham, Diagnosed at 49

Carrie Ketcham is a mother of two who had her first cancer diagnosis in 2009 at age 44. Five years later she was diagnosed with the hereditary condition, Lynch syndrome, after being diagnosed with colorectal cancer.

“…part of why I went through [this] is because I didn’t know. Your knowledge is powerful, it’s gonna keep you healthy and safe” — Carrie Ketcham, Lynch Syndrome Patient

Read Carrie’s Story

Lynch Syndrome testing advocate Carrie Ketcham

mikedampf

Mike Dampf, Diagnosed at 37

Mike Dampf is a father of two who was diagnosed with colon cancer and Lynch syndrome in 2010 at the age of 37.

“Lynch is different. Education is key. You need to get as smart as you can. Good doctors will understand it, but you also need to do your own research. You can’t just sit back and wait.”

Read Mike's Story

Living with Lynch

Early detection and diagnosis of Lynch syndrome can significantly change a patient's life. In 2019, Promega supported the partnership between the Colon Cancer Coalition and AliveAndKickn to share the inspiring stories of Living with Lynch Advocates.

“I can honestly say that being diagnosed with Lynch syndrome really saved my life.” — Amber, Colon and Ovarian Cancer Survivor, Lynch syndrome Positive

Hear the Stories

The Life-Saving Power of Lynch Syndrome Detection

With Lynch syndrome, understanding the genetics, recognizing the symptoms, and being informed about screening solutions can empower people to better manage their health. The article “Altering Genetic Destiny: The Life-Saving Power of Lynch Syndrome Detection” offers more information about Lynch syndrome and features a video about this inherited condition that includes an interview with Dr. Heather Tomlinson (Director of Clinical Diagnostics, Promega) discussing how MSI testing can play an important role in identifying Lynch Syndrome.

Read the Article

heathertomlinson

Dr. Heather Tomlinson
Director of Clinical Diagnostics
Promega Corporation


crc-month-heather-hampel-500x500-2

“…you have tumor tests you can use to identify the patients that are more likely to have it […] And you have surveillance that really works” — Heather Hampel, MS, LGC, The Ohio State University

The Value of Screening Every Tumor for Microsatellite Instability

Universal screening of all tumors and Lynch-associated cancers could help identify patients and families who have an increased risk for colorectal and other cancers. Screening can also identify tumors most likely to respond to immunotherapeutics.

Genetic counselor Heather Hampel is an advocate for universal tumor screening for Lynch syndrome.

Read the Article

Join the Fight!

Fight CRC's Genetics and Family History Advisory Council is advocating for universal tumor screening for Lynch syndrome. Show your support by signing their petition.

Raising Awareness Together

Over the past several years, we have partnered with scientists and the community to raise awareness around CRC. In May of 2021, we raised funds and awareness by partnering with the Colon Cancer Coalition to organize a virtual Get Your Rear in Gear (GYRIG) event. We also established our Promega Clinical Research Program (PCRP) to support academic and community-based physicians and researchers who are interested in collaborating with us or conducting their own research.

In 2019 and 2020, people joined the fight against CRC by taking our pledge to get screened, learn about their family history, talk to friends and family about CRC or wear blue for CRC month. In 2019, each pledge earned a donation towards funding of a Research Advocacy Training and Support (RATS) program, hosted by Promega. We also began a three-year sponsorship of the Collaborative Group of Americas on Inherited Gastrointestinal Cancer (CGA-IGC), whose vision is to eliminate morbidity and early mortality of hereditary gastrointestinal cancers. In 2020, each pledge earned a donation to support Fight Colorectal Cancer’s Callon Congress campaign.

Meet Stacy and hear her story.

“This is where the patient experience is going: more collaboration among advocates, industry, and health care providers.” — Stacy Hurt, Stage IV colorectal cancer survivor turned colon cancer advocate and educator for the RATS program

The Research Never Stops…

Exploring data, asking questions and posing new theories that will help us understand the how and why of the way things work. Because, ultimately, research is what leads to prevention, treatments and cures.

Knowledge is power.

References

1Cancer.org Key Statistics for Colorectal Cancer. Accessed February 7, 2022.
2Rahib et al. (2021) Estimated Projection of US Cancer Incidence and Death to 2040. JAMA Network Open. 4(4), e214708.
3Cancer.net. Lynch syndrome. Accessed February 11, 2021.
4Fightcolorectalcancer.org Colorectal Survival Rates. Accessed February 11, 2022.
5MedlinePlus. Familial Adenomatous Polyposis. Accessed February 11, 2021.
6Win, A.K., et al. (2017) Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol. Prev. 26, 404–12.
7Cancer.org. Lifetime Risk of Developing or Dying from Cancer. Accessed February 7. 2022.