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home - Colon - Colorectal and Anal Cancer - Colonic Polyps FAP Written by Dr Sebastian Zeki

Knows the pathology of benign and malignant tumours of the colon
and rectum
Has awareness of the molecular genetics of colorectal
carcinogenesis and the adenoma-carcinoma sequence
Knows the range of predisposing conditions including inherited
syndromes and acquired colonic diseases
Knows the range of clinical presentation and the means of
diagnosis, investigation, management and follow-up
Knows the strategy for prevention including procedures for

Uses clinical assessment and selects investigations to reach a rapid
conclusion as to whether a patient might have colorectal cancer and
arranges timely investigation.
Refers the patient to the multi-disciplinary team CbD, mini-CEX,

Shows ability to react to possible diagnosis of malignancy in a timely

Communicates with patient and family in a sympathetic and
understanding manner, explains next steps, involves other health
professionals (including the GP) as appropriate

Colonic Polyps FAP

Familial Adenomatous Polyposis EpidemiologyIt is caused by autosomal dominant mutations in APC.FAP occurs in approximately 1/10,000 to 1/30,000 live births.It is equally common in males and females. Frame shifts or premature stop codons, resulting in a truncated APC gene productUsually affects codons 169 to 1393 Extra-colonic malignancies:Duodenal ampullary carcinoma.Follicular or papillary thyroid cancer.Childhood hepatoblastoma.Gastric carcinoma.CNS tumors (mostly medulloblastomas).Gallbladder, bile duct, and the small bowel (esp distal ileum) adenoams- can occur post-colectomy.Congenital hypertrophy of the retinal pigment epithelium CHRPE Se 40 %, sp 97 % for FAP. Polyps develop at av. age of 16 Diagnosis :>100 colonic adenomasAttenuated FAP have fewer polyps. Turcot's syndromeThis is the association of brain tumors (primarily medulloblastomas) and FAP or HNPCC(gliomas).Medulloblastoma in FAP appears to be highest with APC segment 2 mutations. Attenuated FAPPatients have <100 colorectal adenomas.The oncet of CRC is delayed by 12 years compared to classic FAP.. MYH associated polyposis7.5% of those with multiple adenomas and no APC mutations have this.It is autosomal recessive.It is caused by a biallelic mutation of base excision repair gene mutY homolog (MYH, or MUTYH), some-times with APC mutation.The phenotype ranges from 10 adenomas to FAP phenotype- known as MUTYH-associated polyposis (MAP).Homozygotes CRC risk is 100% by age 60/ heterozygotes only have slightly increased risk. Gardner's syndrome FAP Variants Written by Dr Sebastian Zeki

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