L14 - Screening of GI cancer Flashcards
Describe familial adenomatous polypsosis?
- autosomal dominant
- results from germ line mutation of tumour supressor gene, APC gene followed by acquired mutations from remaining allele
- mutation … truncated APC protein
Describe the normal role of APC and its role after mutation?
Normally
- APC binds and isolates B-catenin
After mutation
- can’t bind and isolate B-canetin
- B-canetin transolcates into nucleus
- causes upregulation of many genes
What is the MUTYH gene?
Involved in base excision repair.
May give rise to colonic polyposis.
Autosomal recessive inheritance.
Describe a desmoid tumour?
Abnormal growth that arises from connective tissue
- benign? may become very big causing compression of adjacent organs.
CHRPE - congenital hypertrophy of retinal pigment epithelium
- dark round pigmented retinal lesions.
- if present in at risk person it is 100% indicative of FAP
Turcot’s syndrome
Condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer and an increased risk of brain cancer.
May be associated with FAP.
Peutz-Jegher syndrome
Many harmatomatous polyps occur in small intestine and colon.
- melanin pigmentation of lips, mouth, digits
Asymptomatic usually but:
- chronic bleeding
- anaemia
- intussusception: where one segment of small intestine telescopes inside another/
Harmatoma
Benign, local malformation of cell resembling neoplasm of local tissue.
Usually due to an overgrowth of multiple aberrant cells.
Peutz-Jegher syndrome results from
Shortening mutation in serine-threonine kinase gene on chromosome 19p (STK11)
Autosomal dominant
Describe the occurrence of juvenile polyposis
- caused by germline mutations in the SMAD 4 gene
- family history of polyps
- colorectum contains many mucous filled hamartomatous polyps
Describe the dietary risk factors for colorectal cancer
Increased risk
Red meat : high saturated fat and protein, carcinogenic amines formed in cooking
Saturated animal fat: increased faecal bile and fatty acid level
Describe what kind of diet may decrease the risk of colorectal cancer?
Calcium
Folic acid: reverses DNA hypomethylation
Green veg: anti-carcinogen (flavonoid)
Risk factors for colorectal cancer
- obesity
- smoking
- cholecystecotomy (effect of bile acid in right colon)
- type 2 diabtes
- use of NSAIDs, COX-2 inhibitors
Compare left and right colon tumours?
RHS - anaemia - occult bleeding - altered bowel habit - obstruction is a late feature LHS - fresh rectal bleeding - obstruction occurs early
Signs of carcinoma of rectum
Early bleeding
Mucus discharge.
Feeling of incomplete emptying.