Caner tumor suppressors

Question 1

APC gene

Answer 1

Mutation in adenomatous polyposis coli or APC gene located on chromosome 5q is associated with colorectal cancers, especially those occurring in patients with familial adenomatous polyposis (FAP).

Question 2

BRCA1

Answer 2

BRCA1 is located on chromosome 17q and is associated with breast cancer and ovarian cancer.

Question 3

BRCA2

Answer 3

BRCA2 is located on chromosome 13q and is associated with breast and ovarian cancers, as well as breast cancer in males. Both genes code for DNA repair proteins.

Question 4

DPC4/SMAD4

Answer 4

Deletion in DPC4/SMAD4, which is located on chromosome 18q, is associated with pancreatic cancer. Mnemonic: DPC = “Deleted in Pancreatic Cancer”.

Question 5

DCC

Answer 5

The Deleted in Colorectal Carcinoma, or DCC gene, is located on chromosome 18q and is associated with colon cancer.

Question 6

MEN1

Answer 6

The multiple endocrine neoplasia 1, or MEN1 gene, is located on chromosome 11q and encodes the tumor suppressor protein known as menin. It is associated with MEN type 1 syndrome which is characterized by abnormalities in the parathyroid, pancreas and pituitary glands.

Question 7

NF1 gene

Answer 7

The neurofibromin 1, or NF1 gene, located on chromosome 17q, is associated with RAS GTPase activation and is mutated in neurofibromatosis type 1.

Question 8

NF2

Answer 8

The neurofibromin 2, or NF2, located on chromosome 22q, codes for a cytoskeletal protein, merlin, and is associated in neurofibromatosis type 2.

Question 9

P16

Answer 9

The P16 gene, which is located on chromosome 9p, is a cyclin-dependent kinase inhibitor and is associated with melanoma.

Question 10

P53

Answer 10

The P53 gene regulates cell cycle progression from the G1 to S phase and is involved in most human cancers. Li-Fraumeni syndrome is autosomal dominant cancer syndrome caused by germline mutation of the p53 gene, characterized by an increased risk for developing sarcomas, leukemias, and cancers of the breast, brain, and adrenal glands at young age.

Question 11

PTEN

Answer 11

The PTEN gene, located on chromosome 10q, is associated with
​Breast cancer
Prostate cancer
Endometrial cancer
Cowden Syndrome (autosomal dominant PTEN mutation that predisposes patients to breast cancer, follicular thyroid carcinoma, endometrial carcinoma, as well as benign skin tumors and GI hamartomas).

Question 12

Rb

Answer 12

Retinoblastoma, or Rb gene, located on chromosome 13q, blocks the G1 to S phase progression and is associated with retinoblastoma and osteosarcoma.

Question 13

TSC1

Answer 13

The TSC1 gene, located on chromosome 9q, codes for the tumor suppressor protein hamartin and is associated with tuberous sclerosis. This disease is associated with numerous benign, hamartomatous neoplasms, including
Angiofibromas of the skin
Angiomyolipomas of the kidney
Rhabdomyomas of the heart
Subependymal giant cell astrocytoma of the brain

Question 14

TSC2

Answer 14

The TSC2 gene, located on chromosome 16, codes for the tuberin protein and is associated with tuberous sclerosis. This disease is associated with numerous benign, hamartomatous neoplasms, including
Angiofibromas of the skin
Angiomyolipomas of the kidney
Rhabdomyomas of the heart
Subependymal giant cell astrocytoma of the brain.

Question 15

VHL

Answer 15

The von Hippel-Lindau (VHL) gene, located on chromosome 3p, normally acts to inhibit hypoxia inducible factor (HIF) 1a. Loss of VHL results in constitutive expression of HIF and excess activation of angiogenic growth factors, resulting in von Hippel-Lindau disease. Neoplasms common to this disease include​
Renal cell carcinoma (often bilateral)
Hemangioblastoma (of the retina, cerebellum, and brain stem)
Pheochromocytoma
Cavernous hemangiomas of the skin, mucosa, or organs

Question 16

WT1 and WT2

Answer 16

Wilms tumor proteins, WT1 and WT2, located on chromosome 11p, are associated with Wilms tumor (nephroblastoma) in children.