Genetics Flashcards
What traits are always found in cases of consanguinity?
Autosomal recessive traits
Which parent does mitochondrial inheritance come from?
Mother - no contribution from sperm
What does MEN stand for?
Multiple Endocrine Neoplasm
What is MEN 1 associated with?
- parathyroid hyperplasia
- pituitary adenoma
- pancreatic tumours
What type of inheritance is MEN 1?
Autosomal dominant
How does MEN 1 arise?
Mutations occur which code for a tumour suppressor protein
How is MEN 1 managed?
Difficult to predict disease progression, no specific treatment - treated with an expectant approach & deal with pathology as they arise
How does MEN 2 arise?
Autosomal dominant inheritance of mutation in the RET gene - a pro-oncogene. Mutations result in activation of receptor tyrosine kinase leading to phosphorylation & activation of oncogenic pathways
Describe MEN 2a
Combination of medullary thyroid cancer in association with phaechromocytoma & parathyroid tumours
Describe MEN 2b
Medullary thyroid cancer & phaemochromocytoma in association with marfanoid habits, mucosal neuromas, modulated corneal fibres, intestinal autonomic ganglion dysfunction
What procedure can be carried out as prophylaxis in MEN 2?
Thyroidectomy - carried out within first six months of life
Name four ‘non classic’ endocrine syndromes
Von-hippel lindau
Carney Complex
Neurofibromatosis
McCune - Albright Syndrome
