Path-Tumor Suppressor Genes

Question 1

What has to happen to a tumor suppressor gene in order for cancer risk to increase?

Answer 1

Loss of function -> inc cancer risk

-Both (two) of a tumor suppressor gene must be lost for expression of disease

Question 2

Name the gene product and neoplasm associated with APC

Answer 2

Gene product-Negative regulator of B-catenin/WNT pathway

Associated condition-Colorectal cancer (associated with FAP)

Question 3

Name the gene product and neoplasms associated with BRCA1/BRCA2?

Answer 3

Gene product-DNA repair protein

Associated condition-Breast, ovarian, and pancreatic cancer

Question 4

Name the gene product and neoplasms associated with CDKN2A

Answer 4

Gene product-p16, blocks G1 -> S phase

Associated condition-Melanoma, pancreatic cancer

Question 5

Name the gene product and neoplasm associated with DCC

-Easy way to remember the neoplasm?

Answer 5

Gene product-DCC

Associated condition-Colon cancer (Deleted in Colon Cancer)

Question 6

Name the gene product and neoplasm associated with DPC/SMAD4

-Easy way to remember the neoplasm?

Answer 6

Gene product-DPC

Associated condition-Pancreatic cancer (Deleted in Pancreatic Cancer)

Question 7

Name the gene product and condition associated with MEN1?

Answer 7

Gene product-Menin

Associated condition-MEN1

Question 8

Name the gene product and condition associated with NF1?

Answer 8

Gene product-Neurofibromin (Ras GTPase activating protein)

Associated condition-Neurofibromatosis type 1

Question 9

Name the gene product and condition associated with NF2

Answer 9

Gene product-Merlin (schwannomin) protein

Associated condition-Neurofibromatosis type 2

Question 10

Name the gene product and neoplasms associated with PTEN

Answer 10

Gene product-Tyrosine phosphatase of PIP3 (eg, protein kinase B (AKT) activation)
Associated condition-Breast, prostate, and endometrial cancer

Question 11

Name the action and neoplasms associated with Rb

Answer 11

Action-Inhibits E2F; blocks G1 -> S phase

Associated condition-Retinoblastoma, osteosarcoma

Question 12

Name the gene product/action and conditions/neoplasms associated with TP53

Answer 12

Gene product-p53, activates p21, blocks G1 -> S phase
Associated conditions/neoplasms-Most human cancers, Li-Fraumeni syndrome (multiple malignancies at early age, aka, SBLA cancer syndrome: Sarcoma, Breast, Leukemia, Adrenal gland)

Question 13

Name the gene product and neoplasm associated with TSC1

Answer 13

Gene product-Hamartin protein

Associated condition-Tuberous sclerosis

Question 14

Name the gene product and neoplasm associated with TSC2

Answer 14

Gene product-Tuberin protein

Associated condition-Tuberous sclerosis

Question 15

Name the action and neoplasm associated with VHL

Answer 15

Action-Inhibits hypoxia inducible factor 1a

Associated condition-von Hippel Lindau syndrome

Question 16

Name the gene product/action and neoplasm associated with WT1

Answer 16

Gene product-Transcription factor that regulates urogenital development
Associated condition-Wilms tumor (nephroblastoma)