endocrine genetics

Question 1

what is men1

Answer 1

multiple tumour syndrome

Question 2

clinical features of men1

Question 3

why is men1 important

Answer 3

premature morbidity and mortality

Question 4

clinical genetics - Men1

Answer 4

autosomal dominant inheritance - highly penetrant disorder
occur mutation on chromosome 11q13

Question 5

organisation of MEN1 gene and menin protein

Answer 5

loss of fucrniok (LOF) variants
miss ended variants

Question 6

management on MEN1

Answer 6

goal of management: preventing premature morbidity and mortality from men1 associated rumours whilst preserving QOL

Question 7

men2

Answer 7

medullary thyroid cancer
autosomal dominant
RET gene - 10q
classic proto oncogene

Question 8

how do RET mutations work

Answer 8

affect specific cysteine residues

Question 9

MEN2A

Answer 9

more common (medullary thyroid cancer in association w/ phaeochromocytoma and parathyroid tumours)

Question 10

MEN2b

Answer 10

same but also other clinical manifestations