Cancer Genes

Question 1

c-ret point mutation (2)

Answer 1

MEN (multiple endocrine neoplasm) type 2: thyroid and adrenals

Question 2

bcr-abl t(9,22) translocation

Answer 2

CML

Question 3

c-met point mutation

Answer 3

papillary renal cancer

Question 4

c-myc t(8,14) translocation

Answer 4

Burkitt lymphoma

Question 5

c-sis overexpression

Answer 5

astrocytoma

Question 6

HST GOF

Answer 6

Kaposi sarcoma

Question 7

erbb2 amplification (3)

Answer 7

breast, ovarian, and lung cancers

Question 8

c-tel GOF

Answer 8

myelomonocytic leukemia

Question 9

n-myc amplification

Answer 9

neuroblastoma

Question 10

l-myc GOF

Answer 10

small cell lung cancer

Question 11

Ki-ras point mutation (3)

Answer 11

colon, pancreas, and lung cancers

Question 12

c-kit GOF

Answer 12

GISTs, GI stromal tumors

Question 13

Rb LOF (2)

Answer 13

retinoblastoma, osteosarcoma

Question 14

BRCA 1 and 2 LOF, impaired DNA double strand break repair (2)

Answer 14

breast and ovarian cancer

Question 15

p16 / CDKN2 deletion or methylation

Answer 15

Familial melanoma

Question 16

p53 LOF (4)

Answer 16

Li-Fraumeni: multiple cancers including breast, soft tissue, leukemia, brain

Question 17

WT1 LOF

Answer 17

Wilm’s tumor, childhood kidney cancer

Question 18

NF1 deletion

Answer 18

Neurofibromatosis type 1: CNS glioma

Question 19

APC inactivation

Answer 19

polyps and colon cancer

Question 20

VHL GOF

Answer 20

Von Hippel-Lindau Syndrome: kidney and others

Question 21

FHIT GOF

Answer 21

Fragile HIstidine Triad: multiple tumors

Question 22

PTEN LOF (3)

Answer 22

Cowden / Multiple Hamartoma Syndrome: breast, thyroid, colon, etc.

Question 23

BLM inactivation

Answer 23

Bloom Syndrome: many cancer sites, sunlight sensitivity

Question 24

MEN1

Answer 24

MEN (multiple endocrine neoplasia) type 1: pancreas

Question 25

NF2 LOF

Answer 25

Neurofibromatosis type 2: Schwannomas

Question 26

hMSH2 loss of DNA mismatch repair

Answer 26

HNPCC / Lynch Syndrome: colon, melanoma, endometrium

Question 27

TSC1

Answer 27

Tuberous sclerosis: kidney

Question 28

bcl-2 t(14,18) translocation

Answer 28

Follicular lymphoma

Question 29

ATM (2)

Answer 29

Ataxia-telangiectasia: lymphoma and leukemia

Question 30

XP group, defect in nucleotide excision repair (2)

Answer 30

Xenoderma pigmentosum: squamous cell carcinoma and melanoma

Question 31

EGFR / HER1 amplification (3)

Answer 31

lung cancer, breast cancer, gliobastoma

Question 32

PRAD1 / Cyclin D1 (CCND1) amplification (3)

Answer 32

breast cancer, esophageal cancer, lymphoma

Question 33

Myb amplification

Answer 33

leukemia

Question 34

MLH1

Answer 34

Lynch Syndrome: colon

Question 35

bcl-1 t(11,14) translocation

Answer 35

Mantle cell lymphoma