Tumor supressor genes and family and sporadic cancers

Question 1

APC

Answer 1

WNT
familial colonic polyps and carcinomas
sporadic: carcinomas of stomach, colon pancreas; melanoma

Question 2

NF1

Answer 2

RAS/MAPK
neurofibromatosis type 1
sporadic; neuroblastoma, jufenile myeloid leukemia

Question 3

NF2

Answer 3

cytoskeletal stability, Hippo
neurofibromatosiss type 2
sporadic; schwannoma, meningioma

Question 4

PTCH

Answer 4

hedgehog
Gorlin (basal cell carcinoma, medulloblastoma several benign tumors

sporadic: basac cell carcinoma medulloblastoma

Question 5

PTEN

Answer 5

PI3K/AKT 
Cowden syndrome (variety of benign skin. GI, CNS growths; breast, endometrial and thyroid carcinoma)

sporadic: diverse cancers particularly carcinomas and lymphoid tumors

Question 6

SMADs

Answer 6

TGF
jufenile polyposis
sporadic: frequently mutated in colonic an pancreatic carcinoma

Question 7

RB

Answer 7

inhibitor og G1/S transition
Familial retinoblastoma syndrome (retinoblastoma, osteosarcoma, other sarcomas)

sporadic: Retinoblastoma; osteosarcoma, carcinoma of breast colon lung

Question 8

CDKN2a (p16/INK4a and p14/ARF)

Answer 8

p16 - negative regulator of cyclin dependent kinases
p-14 indirect activator of p53

familial melanoma
sporadic; pancreatic breast and esophageal carcinoma, melanoma, certain leukemias

Question 9

VHL

Answer 9

inhibitor of HIF1a
Von Hippel Lindau syndrome (cerebellar hemangioblastoma, retinal angioma, renal cell carcinoma)

sporadic; renal cell carcinoma

Question 10

E cadherin

Answer 10

cell adhesion, inhibition of cell motility
familial gastric cancer
sporadic: gastrric carcinoma, lobular breast carcinoma

Question 11

TP53

Answer 11

cell cycle arrest and apoptosis in response to DNA damage
Li fraumeni (diverse cancers)
sporadic; most cancers

Question 12

BRCA1 and 2

Answer 12

repair of double stranded DNA breaks
familial breast and ovarian carcinoma, carcinomas of male breast, chronic lymphocytic leukemia
sporadic rare

Question 13

MSH2, MLH1, MSH6

Answer 13

Dna mismatch repair
hereidtary nonpolyposis colon carcinoma
sporadic: colonic and endometrial carcinoma

Question 14

WT1

Answer 14

transcription factor
familial wilms tumor
sporadic; wilms tumor, certain leukemias

Question 15

MEN 1

Answer 15

transcription factor
MEn 1 (pituitary, parathyroid, pancreatic dnocrine tumors)

sporadic; pituitary, parathyroid, and pancreatic endocrine tumors