The UPMC Hereditary Colorectal Tumor Program was established to provide the diagnostic, preventive, and treatment services necessary to support practitioners caring for patients and families at high risk from colorectal cancer (CRC). Using risk assessment strategies, preventive measures, and the full range of diagnostic modalities, clinicians at the Hereditary Colorectal Tumor Program provide an opportunity for these people to prevent cancer and improve quality of life. Program research — including collaborations with national and international research groups — aims to develop more effective means of early diagnosis and definitive treatment.
Colorectal cancer (CRC) is the second leading cause of cancer death among Americans. More than 130,000 men and women in the United States are diagnosed with CRC each year.
| cancer | high-risk group |
U.S. population |
|---|---|---|
| colorectal | 80% | 2% |
| endometrial | 60% | 1.5% |
| ovarian | 12% | 1% |
| gastric | 13% | <1% |
| other | 1-4% | <1% |
CRC in a young individual or a cluster of cancers within the same family may be a sign of a hereditary condition. The most common form of hereditary colon cancer, known as hereditary nonpolyposis colorectal cancer (HNPCC), is responsible for 3 to 5 percent of all colorectal cancers. The average age upon diagnosis of colorectal cancer is in the mid-40s, well before colorectal screening is usually conducted. HNPCC is also associated with a 60 percent risk of endometrial cancer and a greatly increased risk of other less common malignancies (see table).
The majority of HNPCC cancers are caused by an inherited mutation in either of two specific genes — MLH1 and MSH2. HNPCC is a dominant genetic trait: the mutation is inherited by 50 percent of an affected person’s children. Knowing a patient’s HNPCC status can help a physician chart out an effective strategy for reducing cancer risk.