Tumor Supressor Gene/Cancer and Syndrome Association

Question 1

Familial retinoblastoma

Answer 1

RB1 Retinoblastoma, osteosarcoma

Question 2

Li-Fraumeni syndrome

Answer 2

p53 Soft tissue sarcomas, breast cancer, adrenocortical cancer

Question 3

Familial adenomatous polyposis

Answer 3

APC Colorectal polyps and cancer

Question 4

Familial Wilms tumour

Answer 4

WT1 Wilms tumor (a rare kidney cancer that primarily affects children-also known as nephroblastoma.)

Question 5

von Hippel-Lindau disease

Answer 5

VHL Renal cell carcinomas, central nervous system hemangioblastoma, retinal angioma, pheochromocytoma

Question 6

Gorlin syndrome

Answer 6

PATCHED Basal cell carcinoma, medulloblastoma, ovarian fibroma

Question 7

Cowden syndrome

Answer 7

PTEN/MMAC1 Breast cancer, hamartomas

Question 8

Tuberous sclerosis type 1

Answer 8

TSC1 Renal angiomyolipomas, rhabdomyoma

Question 9

Tuberous sclerosis type 2

Answer 9

TSC2 Renal angiomyolipomas, rhabdomyoma

Question 10

Neurofibromatosis type 1

Answer 10

NF1 Neurofibroma, neural sarcoma

Question 11

Neurofibromatosis type 2

Answer 11

NF2 Acoustic neuroma, meningioma, schwannoma, neural sarcoma

Question 12

Familial breast cancer

Answer 12

BRCA1 Breast cancer, ovarian cancer

BRCA2 Female/male breast cancer, pancreatic cancer, prostate cancer

Question 13

Familial juvenile polyposis

Answer 13

SMAD4 Gastrointestinal hamartomatous polyps and cancer

Question 14

Familial gastric cancer

Answer 14

CDH/E-cadherin Gastric cancer

Question 15

Familial melanoma

Answer 15

CDKN2 Melanoma, exocrine pancreatic carcinoma

Question 16

Multiple endocrine neoplasia type 1

Answer 16

MEN1 Parathyroid hyperplasia, enteropancreatic tumors, anterior pituitary tumors

Question 17

Peutz-Jeghers syndrome

Answer 17

STK11 Gastrointestinal hamartomatous polyps and cancer