Our briefing highlights the lack of surveillance screening for younger people at higher risk of bowel cancer.
Genetic factors contribute up to 30% of bowel cancer cases, an estimated 8,000-12,000 cases each year.
Genetic factors mean a strong family history of bowel cancer, or genetic conditions such as familial adenomatous polyposis (FAP) or Lynch syndrome. People with long-term inflammatory bowel disease are also at higher risk.
People in higher risk groups are likely to develop bowel cancer much younger than the general population. Clinical guidance recommends that people in high-risk groups should be in a surveillance screening programme, which is proven to reduce deaths in these groups.
Recent evidence shows that:
Our briefing, “Never too young: Supporting people at higher risk of bowel cancer”, has five recommendations to improve services for people in high risk groups:
Full details of our findings and recommendations are in our full report available here.
Does your family have a history of early onset colon cancer? If so, your family may have Lynch syndrome. Lynch syndrome may also increase one’s chances of developing cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, kidneys, bladder, pancreas, brain, skin, and if you are a male, the prostate. Women with this syndrome also are at higher risk for developing cancer of the endometrium, ovaries, and breasts. Approximately up to 1,000,000 people in the U.S. have Lynch syndrome and yet only 5% know it. Genetic testing, along with preventative measures, and annual medical screening may help one take steps to minimize risk of illness and death.
This is a subtype of Lynch Syndrome characterised by the presence of skin tumours including sebacious gland tumours (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) and keratoacanthomas, first identified in the late 1960s. In one study Muir-Torre was observed to occur in 14 of 50 families (28%) and in 14 of 152 individuals (9.2%) with Lynch Syndrome (South, Hampel et al 2008). The skin tumours in this condition tend to have the same molecular changes that are associated with Lynch Syndrome such as microsatellite instability and loss of expression of proteins associated with DNA mismatch repair deficiency.
This condition is usually managed by annual review with a dermatologist. There is some evidence for the use of isotretinoin – dosage of as much as 0.8 mg/kg/d may be effective. Graefe et alnote in a case report that the combination of interferon with retinoids may be of promise to prevent cutaneous tumor development in persons with MTS. They used interferon (interferon alfa-2a) SC 3 X 106 U 3 times/wk in combination with 50 mg isotretinoin daily and topical isotretinoin gel. Patients should also have treatment as per Lynch Syndrome described in this section including regular colonoscopic surveillance, daily aspirin, etc. Mutations in MLH1 and MSH2 genes are more common than MSH6 or PMS2.