Login

Patients with a Family History of Colorectal Carcinoma


Introduction

Follow the British Society of Gastroenterology surveillance guidelines for colonoscopy in the management of hereditary colorectal cancer.


Glossary

FDR = First degree relative

CRC = Colorectal Cancer

FHCC = Family history of colorectal cancer


 

Referral pathways depending on risk

VERY HIGH RISK:

A diagram of a family history AI-generated content may be incorrect.

 

HIGH, MODERATE OR AVERAGE RISK:

A diagram of a family history AI-generated content may be incorrect.

 

Recommended colonoscopic surveillance post-diagnosis2:

Colonoscopic surveillance is usually organised in secondary care. Please see the conditions listed below for further information on specific surveillance regimes:

 

Lynch Syndrome (LS) and Lynch-like Syndrome:

For patients with Lynch Syndrome that are MLH1 and MSH2 mutation carriers:

  • Colonoscopic surveillance is offered every 2 years from age 25 years to age 75 years

For patients with Lynch Syndrome that are MSH6 and PMS2 mutation carriers:

  • Colonoscopic surveillance is offered every 2 years from age 35 years to age 75 years

For patients with Lynch-like Syndrome with deficient MMR tumours without hypermethylation/BRAF pathogenic variant and no pathogenic constitutional pathogenic variant in MMR genes (and their unaffected FDRs), and no evidence of biallelic somatic MMR gene inactivation:

  • Colonoscopic surveillance is offered every 2 years from age 25 years to age 75 years

 

Serrated Polyposis Syndrome (SPS):

For patients with SPS:

  • Colonoscopic surveillance is offered every year from diagnosis once the colon has been cleared of all lesions >5mm in size
  • If no polyps ≥ 10mm in size are identified at subsequent surveillance examinations, the interval may be extended to every 2 years

For FDRs of patients with SPS:

  • An index colonoscopic screening examination is offered at age 40 or ten years prior to the diagnosis of the index case
  • Surveillance colonoscopy is offered every 5 years until age 75 years, unless polyp burden indicates an examination is required earlier according to post-polypectomy surveillance guidelines

 

Multiple Colorectal Adenoma (MCRA):

For patients with MCRA (defined as having 10 or more metachronous adenomas):

  • Annual colonoscopic surveillance is offered from diagnosis to age 75 years after the colon has been cleared of all lesions >5mm in size
  • If no polyps 10mm or greater in size are identified at subsequent surveillance examinations, the interval may be extended to 2 yearly

 

Familial Adenomatous Polyposis (FAP):

For patients confirmed to have FAP on predictive genetic testing:

  • Colonoscopic surveillance is offered from 12-14 years
  • Further surveillance colonoscopy is then offered every 1-3 years, personalised according to colonic phenotype

For patients with a FDR with a clinical diagnosis of FAP (i.e. “at risk”) and in whom an APC mutation has not been identified:

  • Colorectal surveillance is offered from 12-14 years
  • Then every 5 years until either a clinical diagnosis is made, and they are managed as FAP, or the national screening age is reached

 

MUTYH-associated Polyposis (MAP):

For patients with MAP:

  • Colorectal surveillance is offered from 18-20 years, and if surgery is not undertaken, repeated annually

For monoallelic MUTYH pathogenic variant carriers:

  • The risk of colorectal cancer is not sufficiently different to population risk to meet thresholds for screening and routine colonoscopy is not recommended

 

Peutz-Jeghers Syndrome (PJS):

For asymptomatic patients with PSJ:

  • Colorectal surveillance is offered from 8 years
  • If baseline colonoscopy is normal, further surveillance is usually deferred until 18 years, however if polyps are found at baseline examination, a repeat test is offered every 3 years

For symptomatic patients, investigate earlier.

 

Juvenile Polyposis Syndrome (JPS):

For asymptomatic patients with JPS:

  • Colorectal surveillance is offered from 15 years
  • Further surveillance colonoscopy is then offered every 1-3 years, personalised according to colorectal phenotype

For symptomatic patients, investigate earlier.

 

Early onset colorectal cancer (CRC):

For patients diagnosed with CRC under age 50 years, where hereditary CRC symptoms have been excluded:

  • Standard post-CRC colonoscopy surveillance is offered after 3 years
  • Further colonoscopic surveillance is offered every 5 years until eligible for national screening

 

Please note: Some patients with multiple risk factors for CRC, e.g. Lynch Syndrome and inflammatory bowel disease or multiple polyps, may require more frequent colonoscopies. This will be guided by specialist clinicians with a clear scientific rationale linked to risk management.

 

References

  1. 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. 2020 Mar;69(3):411-444. doi: 10.1136/gutjnl-2019-319915. Epub 2019 Nov 28. PMID: 31780574; PMCID: PMC7034349.
  2. NHS CIOS Commissioning Policies and Evidence-based Interventions

 

Page Review Information 

Review date                                   21st May 2025

Next review date                           21st May 2026        

GP Sifter                                        Dr Laura Vines

Contributor                                    Dr Ruth Cleaver