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Family History of Colorectal Cancer (DRAFT)

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Overview

In the UK one in every fifteen men, and one in eighteen women will develop bowel cancer during their lifetime.

Only about 5-10% of these cases are inherited. i.e., associated with a gene alteration. The presently used R210 gene panel checks for alterations in MLH1, MSH2, MSH6 and PMS2 genes.

Depending on the affected gene an alteration substantially increases the risk of developing certain types of cancer. However, not everybody with an alteration develops a cancer and it is considered that lifestyle and other genetic factors play an important role in this.

Who to refer

There are three potential situations where a genetic test may be offered: CRC referral guidelines V10.

There is a known gene alteration reported in the family relating to bowel cancer
The family history fulfils the Amsterdam criteria
The patient has had bowel cancer diagnosed under 40 years old, or bowel cancer at any age and at least 5 bowel polyps

Red Flags

Red flags of inherited cancer predisposition syndrome are:

A cancer at a young age (e.g., <40 years of age)
Several closely related people of same or different generations have a cancer(s) on the same side of the family. This can be the same type or cancers that are associated with a particular familial cancer predisposition syndrome.

What to do before referral

Consider offering FIT test

If required, a referral for colonoscopic surveillance can be made to endoscopy services via eRS.

Referral

The Clinical Genetics Service in Bristol - refer using eRS

Enquiries to: ubh-tr.clinicalgeneticsuhb@nhs.net
The contact number for the on-call Genetic Counsellor is: 0117 342 5107.

Resources

The CRC referral guidelines V10 has been designed to direct appropriate referrals for CRC family history to Clinical Genetics and/or Endoscopy/Gastroenterology and are based on published guidelines.

Please note that the Amsterdam criteria used to identify Lynch syndrome/HNPCC only are met if all the listed criteria apply.

Information at the genomic laboratory hub website South West Genomic Laboratory Hub | North Bristol NHS Trust (nbt.nhs.uk)

25364 - LYNCH SYNDROME DIAGNOSTIC TESTING FOR MMR

Asprin in the Management of Lynch Syndrome

Links to HEE GEP website:

Bowel cancer: What role do our genes play? - Genomics Education Programme % (hee.nhs.uk)

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