Pathology Flashcards
describe the function of tumour suppressor genes and how they work
Tumour Suppressor Genes – the normal function of these genes is inhibition of cell proliferation or repair of damaged DNA – abnormalities (of both alleles) of tumour suppressor genes can drive a normal cell towards a cancerous state eg. BRCA1
they inhibit cell division or stimulate cell death
may also: mutation in the gene such that the resultant protein has reduced or loss of function
Describe the function of oncogenes and how they work
Oncogenes – the normal function of these genes is an increase in cell proliferation – abnormalities of only one allele of an oncogene can drive a normal cell towards a cancerous state eg. HER2
They stimulate cell division or inhibit cell death
they can result in:
- more of the gene product being expressed,
- a mutation in the gene such that the resultant protein has increased function
- expression occurring in the wrong cell type
- at the wrong time
What cancer is associated wit the chemical abstesos
mesothelioma
What cancer is associated with the chemical from aniline dyes
bladder cancer
What cancer is associated with radiation
thyroid cancer
what is a possible cause for cervix cancer
sexual activity - HPV
give an example of a natural gas that can cause cancer
radon gas
What is the cancer associated with HPV
cervical cancer
what is the cancer associated with HepBVirus
liver cancer
what is the cancer associated with Epstein Barr Virus
lymphoma
what is the disease associated with Kaposi’s Sarcoma
Human Herpes Virus 8
what is the cancer associated with hepatitis B and C
hepatocellular carcinoma (HCC)
how does hepatitis B cause HCC
Chronic Hepatits B infection results in a cycle of inflammation necrosis and regeneration of cells. This increased turnover of cells increases the likelihood of genetic mutations developing and hepatocellular carcinoma occuring
what is the cancer associated with Helicobacter pylori
how does it cause cancer
gastric adenocarcinoma and gastric MALT lymphoma
Long-term infection with H. pylori results in chronic inflammation and the subsequent increased cell turnover increases the likelihood of mutations developing
What type of genes are the p53 gene, the APC gene and the Rb gene
tumour suppressor genes
What is the gene associated with Retinoblastoma
Rb
What is the gene associated with FAP
APC
What is the gene associated with HNPCC (Lynch Syndrome)
MSH2/MLH1
What is the gene associated with breast cancer and ovarian cancer
BRCA1/BRCA2
What is the gene associated with Li-Fraumeni syndrome
p53
Compare the sporadic and familial forms of retinoblastoma based off the Knudson Hypothesis
Sporadic form:
- a mutation has to occur in both copies of the retinoblastoma gene, unlikely
- the longer the period of time that elapses the more likely this is, but it is unlikely to occur more than in one cells. Hence tumours occur late and are unilateral.
Familial form:
- the child inherits from one mutant copy of the retinoblastoma gene, so only one additional mutation needed
- the disease occurs earlier and also there is a high probability of it occurring in more than one cell, and thus tumours may be multi-focal and bilateral.
What are the characteristics of Familial adenomatous polyposis (FAP)
- polyposis - the development of multiple benign (noncancerous) adenomatous polyps (>100) in the colon and rectum, which are described as having a “dense carpet-like appearance” on colonoscopy or sigmoidoscopy.
- early age of onset. Polyps begin to develop at an average age of 16 years (range of seven to 36 years).
What are the Clinical features of Li-Fraumeni syndrome
Cancers at a young age:
- Development of adrenocortical carcinoma
- Development of soft-tissue sarcomas
- Acute leukaemias and brain tumours
- Osteosarcomas
- Premenopausal breast cancer is common
What are the genes FGF fibroblast growth factor
PDGF - platelet derived growth factor examples of
growth factors