Genetics - Who and what to test Flashcards
what kind of mutations are the most common cause of cancer
post-zygotic mutations
cancer cells require genomic …
instability
oncogenes
switch cells on for cell division
driver mutations
mutations that promote carcinogenesis
passenger mutations
incidental mutations that occur because the tumour is unstable
point mutations occur in
genes
name 3 chromosome abnormalities
translocation
duplication
multiplication
activating braf can cause
melanoma
commonest pattern of inheritance for cancer risk
multifactoral
mutations in BRCA1 increase the risk of ____ cancer by 80% and is autosomal _____
breast, dominant
10 year risk of 3% is what risk
medium
10 year risk of 8% is what risk
high risk
a person with the brca mutation has a ____ risk of _____ cancer
high risk of breast caner
in multifactoral inheritance
disease = _____ + _____
genotype + environment
polymorphism
a change in the genome that does not cause disease in its own right
autosomal dominant inheritance is related to the
two hit hypothesis
MLH1 is tested for everyone with ____ cancer in scotland
bowel
what is the hormone therapy that is used to treat and prevent breast cancer
tamoxifen
mammography is used for
diagnosis and screening of breast cancer
most common mutation that will activate an oncogene
missense mutation
