For identification, support and follow up related to Familial Gastrointestinal Cancer conditions South Island Cancer Nurses Network September 2013
Who are we? Specialist multidisciplinary team: Nurse coordinators, gastroenterologists, geneticists, colorectal surgeons, oncologists. National service: Branches in Auckland, Wellington and Christchurch. What do we do? Assess GI cancer risk on basis of family history. Facilitate diagnosis of hereditary cancer syndromes by confirming family history. Facilitate genetic testing. Surveillance recommendations. Co-ordinate surveillance for high risk families.
Referrals GP, Specialist, Genetic service, self referrals Accepted if meet potential high risk guidelines
Risk of inherited bowel cancer 95-98% of population: Average population risk: No personal or family history CRC; OR Slightly above average: 1 o relative over 55 years. 2-5% of the population: Moderately increased risk. 1 st degree relative under 55 or two 1 st degree relatives with CRC at any age (on same side of family). 1% - potentially high risk. 3 or more relatives with CRC over 2 generations with 1 aged <50 at diagnosis HNPCC or FAP
Risk factors for CRC are both environmental and inherited. Sporadic disease No family history. Accounts approx 70 %. Common over the age of 50. Dietary & environmental factors. Familial Up to 25% of cases. Family history of CRC. Pattern is not consistent with one of the inherited syndromes. Individuals from these families are at increased risk of developing CRC. Risk is not as high as with the inherited syndromes. Inherited Fewer than 10% a true inherited predisposition CRC subdivided. Associated with a high risk of developing CRC. Often the causative genetic mutation has been identified and can be tested for.
Family History of Bowel Cancer Individuals with a family history of CRC have an increased risk of developing the disease. The risk depends on the number of relatives affected, degree of relationship and their age at diagnosis. To assess familial risk for CRC need a family history. Should include any CRC in 1st or 2nd degree relative on either side of the family, over three generations if possible. 1 st Degree relatives: parents, siblings, children. 2 nd Degree relatives: grandparents, aunts, uncles, nieces, nephews. CRC reported in relatives should be confirmed if possible.
Hereditary CRC syndromes are as rare as hens teeth! It is NEVER simple working up the family confirming the diagnosis But knowing alters management reassures impacts the whole family & next generation
What makes us suspicious it s inherited? Cancer occurs at unusually young age compared with usual presentation. Development of multiple tumours in a single organ. Development of more than one primary tumour of any type. Family history of cancer of the same or a related type in firstdegree relatives. High rate of cancer occurrence in the family.
Hereditary Diffuse Gastric Ca Peutz-Jeghers Cowdens FAP HNPCC MYH polyposis hyperplastic polyposis Juvenile Polyposis Peutz-Jeghers Cowdens
HNPCC- Hereditary Non Polyposis Colorectal Cancer Lynch Syndrome
HNPCC Mutations (Ref 4)
Management & surveillance Gastrointestinal Increased frequency of colonoscopy. Gastroscopy also in some families.? Colectomy. Extracolonic No definitive evidence that it s effective.
Familial Adenomatous Polyposis FAP
Familial Adenomatous Polyposis (FAP) Colonic adenomatous polyps 100 s to 1000 s. Polyps always become cancerous if left untreated. Caused by a germline mutation in APC gene. Possible duodenal polyposis Autosomal dominant inheritance-50/50 chance. Affects both sexes. World wide.
In addition to CRC patients with FAP are at risk for several extracolonic malignancies including: Duodenal ampullary carcinoma. Follicular or papillary thyroid cancer. Childhood hepatoblastoma. Gastric carcinoma. CNS tumors (mostly medulloblastomas). Desmoids.
Management Once colonic polyposis is established in a gene carrier or an at-risk member of an FAP family: Full colonoscopy to evaluate the extent of the colonic polyposis. Initial upper GI endoscopy. Consultation arranged to discuss the timing of a colectomy. Number, size, and worst histology of the colonic adenomas determine the optimal timing of colectomy.
FAP continued: Without timely surgical intervention inevitably develop colorectal carcinoma by the age of 40-50 years. Polyposis typically develops in the second or third decade of life. Mean age was 16 years. Most patients are operated on between age 15 and 25.
Ongoing surveillance Endoscopy with side viewer frequency calculated on Spigelman criteria. Follow up after rectal surgery of remaining bowel usually yearly depending on adenoma burden.
Conclusion Please refer to NZFGCS if patient has: Self or 1 st degree relative diagnosed CRC under 50y One 1st plus two or more 2 nd degree rels with CRC on same side of family diagnosed any age Two 1 st or one 1 st and one or more 2 nd degree rels with CRC on same side family with one under 55y, or one with multiple CRCs or one also with extra colonic HNPCC related cancer One 1 st or 2 nd degree rel with CRC and multiple polyps Family history of HNPCC, FAP or other CRC syndrome
Thank you!