Genes/Syndromes

Question 1

Xeroderma pigmentosum

Answer 1

DNA nucleotide excision repair, UV light, dimers

Question 2

Multiple endocrine neoplasia-1

Answer 2

ret, pancreatic islet cells

Question 3

Multiple endocrine neoplasia-2

Answer 3

RET; thyroid medullary, oncogene

Question 4

Breast and ovarian cancer

Answer 4

BRCA1,2 DNA repair, tumor suppressor

Question 5

Retinoblastoma

Answer 5

Rb, binds to E2F, tumor suppressor G1-S phase

Question 6

Familial adenomatous polyposis

Answer 6

APC, colorectal caner

Question 7

HNPCC/Lynch syndrome

Answer 7

Colorectal cancer, DNA repair

Question 8

Li-Fraumeni

Answer 8

TP53, many cancers due to P53 mutation, G1-S phase

Question 9

Ataxia-telangiectasia

Answer 9

ATM, lymphoma and leukemia

Question 10

CML

Answer 10

abl, oncogene, tyrosine kinase, philadelphia 9:22 translocation

Question 11

Burkitt’s lymphoma

Answer 11

c-myc, EBV, Africa, oncogene, 8:14 translocation

Question 12

Follicular lymphoma

Answer 12

bcl-2, oncogene, anti-apoptosis

Question 13

Breast, ovarian, gastric cancers

Answer 13

erb-B2, oncogene (HER2/neu) receptor tyrosine kinase

Question 14

Carcinomas, melanomas, lymphomas

Answer 14

Ras GTPase, oncogene

Question 15

Lung tumors

Answer 15

L-myc, oncogene

Question 16

Neuroblastoma

Answer 16

n-myc, oncogene

Question 17

Cowden syndrome

Answer 17

PTEN, tumor suppressor, hamartomas

Question 18

Melanoma

Answer 18

CDK4

Question 19

Mantle-cell lymphoma

Answer 19

CCND1 t(11;14) with IgH