Home > Adults > Genetics >

Family History of Colorectal Cancer

Checked: 16-05-2025 by Jenny Henry Next Review: 16-05-2027

Overview

Guideline

Bristol Regional Clinical Genetics Service Referral Guidelines - Family History of Colorectal Cancer V10.

Background

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.

Lynch Syndrome

Please also refer to the Lynch Syndrome page for more details.

Who to refer

Asymptomatic Patients

There are three potential situations where a genetic test may be offered as outlined below and in more detail in the Bristol Regional Clinical Genetics Service Referral Guidelines - Family History of Colorectal Cancer V10.

There is a known gene alteration reported in the family relating to bowel cancer
The family history fulfils the Amsterdam criteria (as detailed in the guideline document above - please note that the Amsterdam criteria used to identify Lynch syndrome/HNPCC only are met if all the listed criteria apply).
The patient has had bowel cancer diagnosed under 40 years old, or bowel cancer at any age and at least 5 bowel polyps

Symptomatic Patients

Assess patients for symptoms and refer for further investigation if indicated alongside a genetics referral.

Advice and Guidance

There is no advice and guidance service for Clinical Genetics on eRS, but see below for contact details for queries:

Enquiries to: UHBWClinicalGenetics@uhbw.nhs.uk
The contact number for the on-call Genetic Counsellor is: 0117 342 5107.

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.

If a patient is symptomatic then consider further investigation and USC referral if indicated: Lower GI - USC (2WW)

Referral

Referrals should be directed to the Clinical Genetics Service RAS (UHBW) via eRS. Please note that referrals will be triaged and may be returned with advice if a referral is not indicated.

Resources

Bristol Regional Clinical Genetics Service Referral Guidelines - Family History of Colorectal Cancer V10. These guidelines have 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.

South West Genomic Laboratory Hub | North Bristol NHS Trust (nbt.nhs.uk)

Lynch Syndrome - Diagnostic testing for MMR gene alteration- patient leaflet explaining genetic testing for Lynch Syndrome

Aspirin in the Management of Lynch Syndrome - advice on when to use aspirin to reduce the risk of developing colorectal cancer in adults with Lynch Syndrome.

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

Efforts are made to ensure the accuracy and agreement of these guidelines, including any content uploaded, referred to or linked to from the system. However, BNSSG ICB cannot guarantee this. This guidance does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer, in accordance with the mental capacity act, and informed by the summary of product characteristics of any drugs they are considering. Practitioners are required to perform their duties in accordance with the law and their regulators and nothing in this guidance should be interpreted in a way that would be inconsistent with compliance with those duties.

Information provided through Remedy is continually updated so please be aware any printed copies may quickly become out of date.