Table 4

Summary of recommendations for colorectal cancer screening and surveillance in high risk family groups

Family history categories*Life-time risk of CRC death (without surveillance)Screening procedureAge at initial screenScreening interval and procedureProcedures/yr/300 000
At-risk HNPCC (fulfils modified Amsterdam criteria†, or untested FDR of proven mutation carrier)1 in 5 (male) 1 in 13 (female)

  • MMR gene testing of affected rel.

  • Colonoscopy +/− OGD

  • Colonoscopy from age 25 yrs.

  • OGD from age 50 yrs

  • 18–24 months colonoscopy

  • (2 yrly OGD from age 50 yrs)

50
MMR gene carrier

  • 1 in 2.5 (male)

  • 1 in 6.5 (female)

Colonoscopy +/− OGD

  • At-risk FAP

  • (member of FAP family with no mutation identified)

1 in 4

  • APC gene testing of affected rel.

  • Colonoscopy or alternating colonoscopy/flex sig.

  • Puberty

  • Flexible approach important making allowance for variation in maturity

  • Annual colonoscopy or alternating colonoscopy/flex sig. until aged 30 yrs Thereafter 3–5 yearly until 60 yrs.

  • Procto-colectomy or colectomy if +'ve.

2
Fulfils clinical FAP criteria, or proven APC mutation carrier opting for deferred surgery—prophylactic surgery normally strongly recommended1 in 2

  • Colonoscopy or alternating Colonoscopy/flex sig.

  • OGD with forward & side-viewing scope.

  • Usually at diagnosis

  • Otherwise puberty.

  • Flexible approach important making allowance for variation in maturity

  • Recommendation for procto-colectomy & pouch/colectomy before age 30 yrs.

  • Cancer risk increases dramatically age >30 yrs

  • Twice yrly colonoscopy or alternating colonoscopy/flex sig.

1
FAP post colectomy and IRA

  • 1 in 15

  • (rectal cancer)

  • Flex. rectoscopy

  • Forward & side-viewing OGD

  • After surgery

  • OGD from age 30 yrs

  • Annual flex rectoscopy

  • 3yrly forward & side-viewing OGD

3 (dependent on surgical practice)
FAP post procto-colectomy and pouchNegligible

  • DRE and pouch endoscopy Forward & side-viewing OGD

  • After surgery

  • OGD from age 30 yrs

  • Annual exams alternating flex/rigid pouch endoscopy

  • 3yrly forward & side-viewing OGD

3 (dependent on surgical practice)
MUTYH-associated polyposis (MAP)1 in 2–2.5

  • Genetic testing

  • Colonoscopy

  • +/− OGD

Colonoscopy from age 25 yrs. OGD from age 30 yrs

  • Mutation carriers should be counselled about the available limited evidence

  • Options include prophylactic colectomy and ileorectal anastomosis; or biennial colonoscopy surveillance.

  • 3-5 yrly gastro-duodenonoscopy.

4

  • 1 FDR with MSI-H colorectal cancer AND IHC shows loss of MSH2, MSH6 or PMS2 expression.

  • MLH1 loss and MSI specifically excluded (MLH1 loss in elderly patient with right sided tumour is usually somatic epigenetic event)

  • 1 in 5 (male)

  • 1 in 13 (female)

  • (likely over-estimate)

  • Colonoscopy

  • +/− OGD

  • Colonoscopy from age 25 yrs.

  • OGD from age 50 yrs

  • 2 yrly colonoscopy

  • (with OGD aged >50 yrs)

<5 but variable, depending on extent of use of MSI and IHC tumour analysis
Peutz-Jeghers Syndrome1 in 6

  • Genetic testing of affected rel.

  • Colonoscopy +/− OGD

  • Colonoscopy from age 25 yrs.

  • OGD from age 25 yrs

  • Small bowel MRI/enteroclysis

  • 2 yrly Colonoscopy

  • Consider colectomy

  • and IRA for colonic cancer

  • Small Bowel VCE or MRI/enteroclysis 2–4yrly

  • OGD 2 yrly

3
Juvenile polyposis1 in 6

  • Genetic testing of affected rel.

  • Colonoscopy +/− OGD

  • Colonoscopy from age 15 yrs.

  • OGD from age 25 yrs

2 yrly colonoscopy and OGD. Extend interval aged >35 yrs.3

  • ↵* The Amsterdam criteria for identifying HNPCC are: three or more relatives with colorectal cancer; one patient a first degree relative of another; two generations with cancer; and one cancer diagnosed below the age of 50 or other HNPCC-related cancers e.g. endometrial, ovarian, gastric, upper urethelial and biliary tree.

  • ↵† Clinical Genetics referral and family assessment required, if not already in place or referral was not initiated by Clinical Genetics.

  • FAP, familial adenomatosis polyposis; FDR, first degree relative (sibling, parent or child) with colorectal cancer; HNPCC, hereditary non-polyposis colorectal cancer; IHC, immunohistochemistry of tumour material from affected proband; MSI-H, micro-satellite instability – high (two or more MSI markers show instability); OGD, oesophagogastroduodenoscopy; VCE, video capsule endoscopy.