ENDOCRINE GENETICS Flashcards
Two types of genetic disease?
Monogenic
Polygenic
6 modes of inheritance of monogenic disorders?
Autosomal Dominant Autosomal Recessive X-linked Dominant X-linked Recessive Y-linked Mitrochondrial
What is GWAS
Genome Wide Associatinoe Study used to identify mutations for polygenic disease
Mendelian diseases tend to have ___ penetrance and ___ frequency.
Polygenic diseases tend to have ___ penetrance and __ frequency.
Mendelian - high penetrance, low frequency
Polygenic - low penetrance, high frequency
Two most common monogenic endocrine syndromes?
MEN1
MEN2
What are the most common tumours found in MEN1?
3P’s
Pituitary
Parathyroid
Pancreas
What are the most common tumours found in MEN2?
PMP
Parathyroid
Medullary Thyroid Cancer
Phaechromocytoma
Mutation in which gene causes MEN1?
MEN1 gene
Mutation in which gene causes MEN2?
RET gene
MEN1 and MEN2 are autosomal dominant/recessive?
Dominant
How does MEN1 cause loads of tumours?
Inactivation of tumour suppressor
How does MEN2 cause loads of tumours?
Activation of one oncogene
What disease tends to cause the 50% early mortality seen in MEN1 patients?
Malignant pancreatic tumours
What treatment do most patients with MEN2 get and why?
Prophylactic Thyroidectomy
Carney complex?
Spotty pigmentation
Cushings
Acromegaly
Thyroid Cancer
