Frequently Asked Questions

Below are some of the most common questions regarding HNPCC and this study.

What causes HNPCC?

Hereditary nonpolyposis colorectal cancer syndrome (HNPCC), or Lynch Syndrome, is characterized by early age onset colorectal cancer and endometrial (uterine) cancer as well as a family history of colon and/or endometrial cancer. Some other extracolonic cancers (such as stomach, small intestine or pancreas) occur at increased rates as well.

HNPCC is caused by mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). If someone has a mutation in one of these genes, there is a 50% chance that the mutation will be passed on to his or her child. Patients with HNPCC have an 80-90% lifetime risk of developing colon cancer. However, in families with HNPCC/Lynch Syndrome, the ages at which family members develop cancer tend to vary. One family member might develop cancer at a young age such as 20 or 30, and another family member might not develop cancer until a much older age such as 70 or 80. Some are fortunate enough not to develop any cancer at all. Furthermore, in families with HNPCC/Lynch syndrome, the types of cancers that family members develop vary.

What is the study researching?

We are trying to discover the differences between family members with HNPCC or with a family history of colon cancer that are causing these varying ages of onset and different types of cancers. Why would a son develop cancer at 20 and his father at 70 even though they have this same gene mutation in common? We believe these differences can be attributed to minor genetic variations and overall health and diet. We work within the Division of Cancer Prevention and Population Sciences and are hoping to improve preventative measures.

Who can participate in the study?

Individuals and their relatives who have the known genetic mutation may participate in this study. People with an increased risk of developing cancer because of a strong family history and an early age of onset for colon cancer also can participate.

Does it cost anything to participate?

There are no monetary study costs to the participant. The only cost is the time to participate. Blood-drawing fees will be reimbursed. If you chose to see a genetic counselor or have genetic testing done, these clinical services are beyond the scope of this research protocol and are not covered.

Will my information be kept confidential?

All information obtained by the study is completely confidential. No names or other identifying information would appear on any reports. As this is a research study, individual results are not provided. All results will be in the form of a study summary.

Will any individual results be provided?

Individual results are not able to be provided by the study. Our laboratory is a research lab and the tests we perform are done on a research basis. Federal regulations require genetic testing at CLIA-certified labs and due to the need for trained professionals to explain the clinical implications of such results, individual results are not provided by the study. For overall study findings, we will add them to the "Research Findings" portion of the website.