cancer as a genetic disease Flashcards
oncogenes and tumour suppressor genes: explain what oncogenes and tumour suppressor genes are, and why they are important in cancer
oncogenes definition
promote growth and proliferation; gain function
dominant oncogenes
only one gene copy mutated; when active, override apoptosis
oncogenic gene fusions in leukaemia
92 chromosomes→improper separation→45 (monosomy)/47 (trisomy)
tumour suppressors definition
regulate cell division (G1→S and in S); if DNA damage, no division, leading to apoptosis or repair
recessive tumour suppressors
both mutated copies (most can function normally with one non-mutated allele)
Knudson’s 2-hit hypothesis
2 alleles: hit 1 causes a decrease in transcription rate but no phenotypic effect (point mutation); hit 2 causes a total loss of transcription so malignant potential (deletion)
genetic disease causing a mutated tumour
genetic disease → age → malignant clone by mutations (e.g. aneupoloidy, translocation macro-deletions/insertions, point mutations) → polyclonal (tumour mutates)