Cancer Predisposition
Oncology Dx
Cell cycle
P53 and RB tumor suppressor genes
Association : disease
Genes
Two hit hypothesis = need oncogene as well as knock out the corresponding tumour suppressor gene)
Growth advantage over normal cells through increase proliferation or reduced apoptosis
Infections (? are these involved in creation / inactivation or above genes?)
Epstein-Barr virus (EBV):
Disease : Association
Cell cycle
P53 and RB tumor suppressor genes
Association : disease
Genes
Two hit hypothesis = need oncogene as well as knock out the corresponding tumour suppressor gene)
Growth advantage over normal cells through increase proliferation or reduced apoptosis
- Oncogenes
- amplification
- point mutations
- RET: multiple endocrine neoplasia 2
- translocation
- t(9;22): philidelphia > CML, ALL
- See table below
- Tumour suppressor genes (recessive as both genes need to be knocked out, together or independently, pre or post conception)
- p53 (this is affected in 50% of cancers)
- RB (Retinoblastoma)
- ...170 suggested so far
- Many oncogenes / TSG present as syndromes
- Hemihypertrophy +/- Beckwith syndrome (Wilms (large no of associations), hepatoblastoma, adrenal carcinoma, pheo)
- .....
Infections (? are these involved in creation / inactivation or above genes?)
Epstein-Barr virus (EBV):
- Lymphoma (Burkitt’s, Hodgkins (mixed cellularity and lymphocyte-depleted), T-cell)
- nasopharyngeal carcinoma
- B-cell lymphoproliferative disease (in HIV)
- hepatocellular carcinoma
- hepatocellular carcinoma
- splenic lymphoma
- cervical carcinoma
- Kaposi sarcoma, B-cell lymphoma, Castleman disease (plasma cell variant) (all in HIV)
- T-cell leukemia and lymphoma
Disease : Association