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Bowel cancer - A family affair. Alice Christian Genetic Associate C&SRGS. Identification of a familial mutation may lead to the identification of many relatives at risk. Hereditary Cancers. How to spot an inherited cancer What to do about it Surveillance Referral pathways.

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bowel cancer a family affair

Bowel cancer- A family affair

Alice Christian

Genetic Associate


identification of a familial mutation may lead to the identification of many relatives at risk
Identification of a familial mutation may lead to the identification of many relatives at risk
hereditary cancers
Hereditary Cancers
  • How to spot an inherited cancer
  • What to do about it
    • Surveillance
    • Referral pathways
family history is the key
Family history is the key
  • 3 generation pedigree
  • All cancers noted
  • Ages at diagnosis
features of hereditary cancer
Features of Hereditary Cancer
  • More cancer than expected in the family
  • Types of cancer are consistent, or fit a known hereditary cancer pattern
  • Early age of onset (<55 with Fhx or very young with no Fhx)
  • Multiple primary tumours in an individual
  • Presence of unusual cancers or other features – eg. Skin lesions, CHRPES



Colon - 56yrs

Colon - 50 yrs


Endometrial - 50yrs

Urinary tract - 60yrs

Colon - 56yrs

Endometrial - 60yrs

Ovarian - 45yrs

Colon - 50 yrs

lynch syndrome hereditary non polyposis colorectal cancer hnpcc
Lynch syndrome (Hereditary Non-Polyposis Colorectal Cancer (HNPCC) )

Increased risk for:

  • Colon cancer ~ up to an 80% lifetime risk
  • Endometrial cancer ~30-60% lifetime risk
  • Ovarian cancer ~ 10% lifetime risk
  • Other cancers e.g. gastric, hepatobiliary, kidney, urinary tract, small bowel cancer
  • Sebaceous adenomas
familial adenomatous polyposis fap
Familial Adenomatous Polyposis (FAP)
  • Adenomatous polyps in colon and rectum
  • Colorectal cancer, usually by age 40
  • Increased chance for some other malignancies:
    • duodenum, stomach, brain, papillary thyroid cancer in young women, ?hepatoblastoma in young children
  • Familial adenomatous polyposis (FAP) is diagnosed clinically in an individual with:
  • Greater than 100 colorectal adenomatous polyps OR
  • Fewer than 100 adenomatous polyps AND a relative with FAP

Adenomatous Polyps in Colon


other features
Other Features
  • Benign desmoid tumors
  • Dental anomalies
  • Epidermoid cysts (esp. scalp)
  • Retinal lesions (CHRPE)
  • Osteomas of the mandible
  • Variable presentation, even within the same family
Mucocutaneous hyperpigmentation is associated with Peutz-Jegher syndrome. May be subtle and fade with age
www nzgg org nz

*Guidelines only – must be flexible!

** due for review


Risk may be up to 2x that of the general population

  • Most of this additional risk from 60 years of age
  • If considering one-off screening for reassurance
  • – 50yrs for men, 55 for women.
surveillance for moderate risk group
Surveillance for moderate risk group
  • Surveillance – 5 yearly, from 50 (or 10 years before youngest diagnosis)
  • Unlikely to be available through the public system
  • Available through private system
  • Other alternatives may be more accessible:
    • Faecal occult blood (evidence for popn risk)
    • CT colonography
who should be referred for assessment of family history
Who should be referred for assessment of family history?
  • Known cancer syndrome in the family
  • Fit “high risk criteria”
  • Problematic “moderate risk”
where to refer
Where to refer?
  • Genetic services
  • NZ familial GI registry
nz familial gi cancer registry
NZ Familial GI Cancer Registry
  • Provide assessment for familial gastrointestinal cancer syndromes
  • Facilitate ongoing surveillance for at-risk family members
  • Gatekeepers for colonoscopy
  • Funding recently extended to allow a national service
registry locations
Registry locations
  • Auckland hospital
  • Christchurch hospital
  • Proposed Wellington site by 2011 - 2012
registry pathway
Registry pathway:
  • Refer families for assessment by the registry
  • All cancers confirmed where possible (30% concordance between family history given to GP, and confirmed history)
  • Surveillance guidelines provided based on family history. High risk families enrolled in registry for ongoing management.
Families identified as having a likely familial cancer syndrome are referred to genetic services.
  • Genetic services offer genetic testing.
  • Outcome shared with registry who establish appropriate management
  • Genetic services meet with extended family for predictive testing of identified mutations
genetic testing limitations
Genetic Testing Limitations
  • Mutations detected in minority of families
  • Requires blood from living affected relative
  • Lengthy and expensive process
  • Predictive test gives no information on if, when or what type of cancer an individual will develop
  • Sporadic cancer occurs within cancer syndrome families.
  • Family history is the key
  • If looks familial refer to genetic services or Familial GI registry
  • In terminal patients store DNA if there is any chance it is familial (EDTA 20mls)
  • Ring if you have any queriesor not sure whether to refer or not.


0508 364 436

  • (04) 3855310 or ext 5310
  • Healthpoint