Quick Snappers: Genetic Associations Flashcards
t(12;16)
Myxoid liposarc
Rothmund-Thompson syndrome - name the gene affected and associated tumour
RECQL4 - osteosarcoma
Osteogenesis Imperfecta Gene
COL1A1, COL1A2 (don’t mix up with ehler’s danlos - COL5A1/2)
Duchenne Muscular Dystrophy
Dystrophin Gene
t(12;22)
clear cell sarcoma
Neurofibromatosis
NF1
Spinal Muscular Atrophy
Survival Motor Neuro (SMN) Think: defective survival motor neuron decreases survival: SMA is often fatal
Marfan’s
FBN-1 (fibrillin)
name as many conditions as possible with multiple inheritance patterns (ortho related)
CMT
osteopetrosis
OI
NF
SED
MED type 1 gene
COMP
Retinoblastoma - name the gene affected and associated tumour
RB1 - osteosarcoma
oilier’s disease
PTHR1 - GNAS1 - enchondromas, chondrosarc
cleidocranial dysplasia gene
CBFA-1
Ehlers-Danlos Gene
Classic: COL5A1/2 Don’t mix up with OI: COL1A1 & COL1A2
t(2;13)
alveolar rhabdomyosarc