Genetics Flashcards
11q13 = ___ gene which acts as a ___
MEN1
classic tumour suppressor
MEN1 mode of inheritance =
3 main tumours associated -
auto dom
parathyroid adenoma
enteropancreatic tumour
pituitary adenoma
MEN2 mode of inheritance =
gene = ___ which acts as a ___
auto dom
RET gene 10q
proto-oncogene
mutations that affect RET 10q gene (MEN2) affect specific ___ and cause activation of ____ => a clear ___ correlation
cysteine residues
receptor tyrosine kinase
pheno/genotype
MEN1 has no __ correlation
pheno/genotype
3 main tumours associated with MEN2A
parathyroid hyperplasia, MTC, phaeo
3 main tumours and 1 main feature of MEN2B
mucosal neuromas
MTC
phaeo
marfanoid body habitus
management of MEN2
Rx for MTC
screening for phaeo and parathyroid cancer
MTC = prophyalctic thyroidectomy
high risk of P+PT = screen from 11yo
moderate risk of P+PT = screen from 16yo
Carney complex = __++
PPNAD (primary pigmented nodular adrenocortical disease =>Cushings)
acromegaly
thyroid carcinoma
Carney complex is caused by a mutation in ___ which causes ___ signalling => ___
PRKAR1A
aberrant PKA signalling
uncontrolled proliferation
McCune- Albright syndrome is caused by a ____ mutation that causes ___
post zygotic GNAS mutation
constituitive cAMP signalling
6 s+s of McCune-Albright syndrome =
cafe-au-lait polyostotic fibrous dysplasia precocious puberty (F) thyroid nodules GH excess Cushings
VHL mode of inheritance =
causes accumulation of __ and stimulates ___
causes a range of ___ tumours
auto dom
HIF proteins ; cell proliferation
vascular
7 things associated with NF1
cafe au lait axillary freckling neurofibroma optic glioma scoliosis decreased IQ phaeo (rare)
genes that are associated with paraganglioma and phaeos that code for key mitochondrial enzymes in succinate pathway in Kreb’s cycle
succinate dehydrogenase genes (B,C+D)
