Familial Tumor Syndromes -genes

Question 1

Gene mutations in Cowden

Answer 1

PTEN

Question 2

Gene mutations in Tuberous sclerosis complex

Answer 2

TSC1 -chrom 9p34 hamartin
TSC1-chrom 16p13 tuberin
tumor suppressor- mTOR pathway

Question 3

Gene mutations in Li-Fraumeni Syndrome

Answer 3

P53

Question 4

Gene mutation in Turcot syndrome

Answer 4

APC
(high risk for childhood onset medulloblastoma)

Question 5

Gene mutation in Nevoid Basal Cell Carcinoma/Gorlin Syndrome

Answer 5

PTCH1 and SUFU

Question 6

Gene mutation in Von Hippel Lindau

Answer 6

VHL
tumor suppressor chrom 3
cytoplasm chaperone protein (degrades hypoxic inducible factors 1a and 2a (response to cell hypoxia))

Question 7

Gene associated with NF1

Answer 7

NF1 gene on chrom 17q11.2 encodes TS neurofibromin (neg regulator of RAS-mitogen-activated protein kinase)
large gene 350 kilobase pairs
if microdeletion=large portion of gene <1.4 megabase pairs)=more severe phenotype

Question 8

Gene associated with NF2

Answer 8

NF2 gene chrom 22q12 encodes merlin (scwannomin) protein - scaffolding enzyme links membrane proteins

Question 9

Cowden syndrome