Patients with a family history of colorectal cancer (including endometrial cancer)

NHS Tayside RefGuide
NHS Tayside

Who to refer?

Patients who are likely to be at an increased risk may have:

  • 1 first degree relative with colorectal cancer <50 years
  • Or 2 first degree relatives with colorectal cancer
  • Or 2 relatives in first degree kinship with colorectal cancer mean age <60 years
  • Or 3 relatives in first degree kinship with colorectal or endometrial cancer.

Patients may also be at an increased risk if they have a personal or family history of multiple bowel polyps and/or colorectal cancer.

Note: a first degree relative is a parent, sibling or child.

Note: first degree kinship is relatives who are first degree relatives of each other and at least one is a first degree relative of the consultand.

If you are unsure if your patient meets these criteria, please contact us to discuss.

The full guideline used for estimating risk and organising management can be found in: Monahan KJ et al. (2020) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 69:411-444.

Why refer?

The purpose of a referral is to assess the risk to the patient on the basis of their family history supplemented by molecular genetic investigations in the small proportion of families at highest risk. We can arrange additional colonoscopy screening for patients found to be at increased risk and prophylactic surgery where appropriate.

Where to refer to?

There are clinics in Perth, Dundee and Arbroath, and these are usually run by Genetic Counsellors. The Genetics department is based at Ninewells Hospital.

 

Hereditary vs non-hereditary cancer

Most cancers occur by chance, but some have a predominantly hereditary origin. Inherited mutations in genes which are known to predispose to colorectal cancer (in conditions such as familial adenomatous polyposis and Lynch Syndrome) are only found in about 5% of cases of colorectal cancer. About 16-56% of men with Lynch Syndrome will develop colorectal cancer in their lifetime, and 17-48% of women. Women with Lynch Syndrome have a 37-46% lifetime risk of endometrial cancer.

Bowel cancers caused by the interaction of many genes and environmental factors, each having a small effect on cancer risk, may also cluster in families. Relatives of some people with cancer with a multifactorial aetiology may also have a significantly increased risk of cancer and may benefit from additional screening investigations but their risk will be substantially lower than the risk for people with an autosomal dominant predisposition.

Clues that a cancer may be hereditary include:

  • More than one family member of a family affected
  • Cancers from a ‘group’ caused by mutations in the same gene (like colorectal and endometrial cancer)
  • A number of generations affected
  • More likely to be diagnosed at younger ages (<50)
  • Multiple tumours or polyps and rare cancers.

 

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Editorial Information

Next review date: 15/01/2026