NCI: Lynch Syndrome Workshop and Shining Light on Cowden Syndrome


Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome

The National Cancer Institute (NCI) is convening a Workshop on February 22–23, 2017, in Rockville, Maryland, to discuss issues related to cancer genetic testing approaches, current practices, and resources for case and family ascertainment in hereditary cancers, using Lynch syndrome as an example.

Lynch syndrome is a genetically inherited disorder that increases the risk of colorectal and endometrial cancers and several other malignancies. It is estimated that in the United States, up to 1 million people live with Lynch syndrome, but many are unaware of it. One approach recommended by the Cancer Moonshot Blue Ribbon Panel for identifying those with Lynch syndrome is testing of colorectal and endometrial cancers for specific markers. When the tumor test is abnormal, additional genetic testing and counseling is indicated to determine whether an individual has Lynch syndrome. If Lynch syndrome is diagnosed, then other family members could be tested.

During the Workshop, the Cancer Moonshot Blue Ribbon Panel Report recommendations on cancer prevention and early detection in individuals at high risk for cancer will be reviewed, and discussion topics will include health care delivery, gaps in current knowledge, and identification of resources needed to inform implementation.

For more info, please click here.

I will most definitely be attending this meeting and will keep you abreast to any new, interesting information regarding Lynch syndrome. Following Rockville, I will go to DC on Friday, February 24, 2017, for a meeting with the leadership of the Genomics and Population Health Action Collaborative (GPHAC) in Washington, DC. to discuss Lynch syndrome since it is now classified as a Tier 1 priority. I am truly honored to be the only advocate for those with Lynch syndrome to be a part of this collaborative.

There are many hereditary cancer syndromes out there and I am truly interested in shining light onto all of them — they all warrant the same attention. The people that I have the pleasure of interacting with on various social media platforms who hold these various mutations have provided me with tremendous insight and perspective — their   daily battles are heart-wrenching. With Colon Cancer Awareness Month also approaching, it is important to note that Lynch syndrome is not the only hereditary cancer syndrome responsible for colon cancer — there are quite a few others; Cowden syndrome being one of them.

This blog post by Kendra is devoted to Heather… 



Cowden syndrome is a condition that affects 1/200,000 individuals. It is characterized by benign and malignant tumors in certain areas of the body. Almost everyone with Cowden syndrome develops tumors called hamartomas. These growths are usually found on the skin or the lining of body cavities and organs. Typically, by an individual’s late 20s these growths become apparent.

Individuals with Cowden syndrome also have an increased risk of developing certain types of cancer, including breast cancer, thyroid cancer, and uterine cancer. In addition, some people with Cowden syndrome have also been diagnosed with colorectal cancer, kidney cancer, and melanoma (a type of skin cancer).

The lifetime risk of developing these types of cancers in individuals with Cowden syndrome is higher than the general population. In addition, people with Cowden syndrome tend to develop these types of cancer at younger ages compared to the general population.

Apart from cancer or tumors, individuals with Cowden syndrome can have macrocephaly (large head), Lhermitte-Duclos disease (noncancerous brain tumor), and a small percentage can have intellectual delay.

Cowden syndrome is caused by changes in a gene called PTEN. Genes provide the instructions for our body. Our genes are made up of DNA, which is a code and is essentially made up of letters. If a gene has a spelling error or a portion of the code is missing or duplicated, then that gene might be not functioning properly. This is called a genetic mutation. In Cowden syndrome, this genetic mutation can be found new in a person 10%-47% of the time, or it can be inherited from a parent.

Cowden syndrome can be passed down from generation to generation, and is inherited in an autosomal dominant pattern. Autosomal means that it can be passed down through men or women, and dominant means we can see the condition in every generation. To further explain, we have two copies of every gene in our body. If one copy of a gene is not functioning properly and the other one is, there is a 50% chance of passing on the nonworking copy for each pregnancy, which means that pregnancy would be affected. There is also a 50% chance of passing on the working copy for each pregnancy, which means that pregnancy would not be affected and that child would not be able to pass on the condition to their children.

If a person is diagnosed with Cowden syndrome, there are many management and screening recommendations to help take care of that person and catch cancer early if a cancer forms. It is recommended to have annual mammograms starting at age 30, and a breast MRI annually for patients with dense breast tissue. It is recommended to get an annual ultrasound for the thyroid and renal imaging every 2 years starting at the age of 40. It is also recommended to get a colonoscopy every 2 years starting at the age of 35.

Eng, C. PTEN Hamartoma Tumor Syndrome. Retrieved February 2, 2017 from .

Genetics Home Reference. Retrieved February 2, 2017 from

Mester, J., & Eng, C. (2014). Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. Journal of Surgical Oncology, 111(1): 125-130.

Schnieder, K.A. (2002). Counseling about cancer: strategies for genetic counseling. Retrieved February 2, 2017.

Kendra Frome is currently a Northwestern genetic counseling studentunnamed-1. She will graduate in March of 2017 with a Masters degree in genetic counseling. She has experience working with cancer, prenatal, and pediatric genetics. She has a special interest in fertility preservation and techniques for cancer patients, and is currently working on her thesis regarding partner perspectives on fertility preservation. She is originally from Oregon and enjoys spending time outdoors hiking, doing sports, and swimming.

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