Hereditary factors in Colorectal Cancer CaseStudy
- Subject Code :
SBI541
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2and 5% of all CRCs occur due to inherited syndromes. In most hereditary CRC syndromes,polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ betweenthe conditions. Discovery of the key germline mutations in these syndromes has beeninstrumental to our understanding of the underlying molecular mechanisms of colorectalcarcinogenesis. Pathological progression differs among different types of hereditary CRCsyndromes.
Case Study
A 35-year-old man presented to his GP with complaint of altered bowel habits. Onquestioning, it was revealed that he was having off-and-on constipation for the last 4months.Hehasalsolost6kgbody weight duringthelast4-5months.
His past medical history was unremarkable. His father died of bowel cancer at the age of 56and one of his paternal uncles was recently diagnosed with colon cancer. He was worriedthat hisconstipation mightbea dangerous sign.
In addition to other tests, the doctor advised him to have colonoscopy, which revealedhundredstothousandsofadenomatouspolypswhichwerepresentthroughouttheentirecolon.
Aworkingdiagnosisoffamilialadenomatouspolyposis(FAP)wasmade,awaitingfurtherinvestigations.
Questions
FAP is an autosomal dominant hereditary cancer syndrome caused by a germlineheterozygousmutationintheadenomatouspolyposiscoligeneAPC.Pleaseanswerthefollowingquestions inrelation toFAP:
Question1
Describethepathogenesisof coloncancerin patientswithFAP.
Question2
Describe the investigations which can help diagnose the condition. How do theseinvestigationsinformprogression ofdiseaseandtherapeuticdecision-making?
Question3
Discuss the advantages and disadvantages of the screening tests for colon cancer. Identifythecurrentrecommendations(guidelines)forscreeningofcolon cancerin Australia.
AssignmentRequirements
- Computer generated document,frontsize:12;double
- Length: Maximum1500words(notincludingreferences,tablesandfigures).
- Submit on time. Late submission will incur late penalty (unless an official extension to submission isacquired).
- References:maximum20FollowAPA7theditionreferencingstyle.
QUESTION |
DESCRIPTION |
RECOMMENDED WORDCOUNT |
PathogenesisofFAP |
Descriptionofvariousstagesinthe pathogenesisofFAP. |
300approx. |
DiagnosisofFAP |
Applicationofpathologicalinvestigations in diagnosing FAP. Any role of theseinvestigationsintreatmentdecision? |
700approx. |
ScreeningforColonCancer |
Compare advantages vs disadvantages ofsuchprograms.Describethelatest guidelinesinAustralia. |
500approx. |
TOTAL |
1500 |