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Bowel Cancer UK Campaign: People at high risk of bowel cancer


Bowel Cancer UKFrom Bowel Cancer UK: Read more here

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.

Research findings

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:

  • People diagnosed are not routinely tested for genetic conditions, and only a third of centres identify and manage high-risk patients through a registry.
  • Even when they are in a surveillance programme, patients may have to wait a long time for their screening colonoscopy. Thirty-five hospitals offering a surveillance programme have a waiting time of over 26 weeks (6 months) for people at higher risk.
  • More than half of centres do not have a programme for managing high-risk groups.
  • 64% of clinicians believed that someone else should be carrying out the surveillance work.

Recommendations

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:

  1. Better surveillance screening for those at high risk of developing bowel cancer.
  2. Clear information should be made available for GPs and the public on who may be at higher risk of bowel cancer.
  3. As people with a genetic condition such as Lynch syndrome typically develop bowel cancer at a young age, anyone diagnosed with bowel cancer under the age of 50 should have a genetic test for these conditions, so they and their families can be included in a surveillance programme.
  4. Adequate endoscopy service capacity to ensure that people at high risk do not have a long wait for their colonoscopy.
  5. Designation of a single named lead person in each hospital trust with responsibility for a registry of people at higher risk.

Full details of our findings and recommendations are in our full report available here.

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Lynch Syndrome Awareness Day: March 22, 2014


Imageby Georgia Hurst, MA (Founder of Ihavelynchsyndrome.com)

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.

Please visit ihavelynchsyndrome.com or Lynchcancers.com for more information.

 

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Muir-Torre Syndrome: Lynch Syndrome with skin manifestations.


English: Low mag. Image: Sebaceous adenoma - i...

English: Low mag. Image: Sebaceous adenoma – intermed mag.jpg (Photo credit: Wikipedia)

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.

Sebaceous adenoma

Sebaceous adenoma

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