cancer genetics Flashcards
what is cancer
malignant neoplasm
cells grow and reproduce uncontrollably
can invade and destroy surrounding tissue
what is tumour heterogeneity?
dif tumour cells show distinct morphological and phenotypic profiles
what are driver mutations?
mutations that drive cancer initiation and progression
what are passenger mutations??
mutations acquired which don’t contribute to cancer
what is a proto-oncogene?
a type of normal gene that produces a protein that promotes cell growth and proliferation, eg. KRAS
how can proto-oncogenes become cancerous?
driver mutation in proto-oncogene
what is an oncogene?
a proto-oncogene with driver mutations
what is a tumour suppressor gene?
a type of normal gene that produces a protein that helps limit cell growth and proliferation (halt cell cycle) eg. TP53
driver mutations in tumour suppressor gene can lead to cancer
what is the Knudson/2-hit hypothesis?
most tumour suppressor genes require both alleles to be inactivated to cause a phenotypic change
what are hallmarks of cancer?
a set of functional capabilities acquired by human cells as they change from normalcy to cancer
list the hallmarks of cancer
sustained proliferative signalling:
evading growth suppressors:
non-mutational epigenetic reprogramming
avoiding immune destruction
enabling replicative immortality
tumour-promoting inflammation
polymorphic microbiomes
activating invasion and metastasis
inducing or accessing vasculature
senescent cells
genome instability and mutation
resisting cell death
deregulating cellular metabolism
unlocking phenotypic plasticity
what is phenotypic plasticity?
what are germline mutations?
mutations in reproductive cells
what are somatic mutations?
mutations in non-germ cells
cant be inherited
what is the cancer gene census (CGC)?
catalogues genes which contain mutations that are associated w cancer risk genes
736 cancer genes rn
each has the potential to have driver mutations, resulting in the acquisition of 1 or more of the hallmarks of cancer
