Cancer

Question 1

Retinoblastoma (Rb) genes

Answer 1

1/4 of cases are b/l
all b/l cases are inherited point mutations

3/4 are u/l, most of these are sporadic mutations

2 hit hypothesis
in the heritable form of retinoblastoma, one of these hits comes from the parent gene and the other hit arises sporadically

in the somatic/sporadic form, both hits arise sporadically

the white reflex is an avascular growth at the back of the eyeball

Question 2

p53

“gaurdian of the genome”

Answer 2

mutations in more than 50% of human cancers
acts through p21 to cause cell cycle arrest
G1/S and G2/M checkpoints

causes apoptosis by inducing transcription of pro-apoptotic genes (such as BAX)

mutations in this gene allow the cell to progress through the checkpoint despite the presence of DNA damage/mutations

Question 3

APC- adenomatous polyposis coli

Answer 3

familial adenomatous polyposis- colon cancer

Question 4

BRCA

Answer 4

breast cancer (3%)
ovarian cancer

Question 5

DPC

Answer 5

“deleted in pancreatic cancer”

Question 6

DCC

Answer 6

“deleted in colon cancer”

Question 7

Neurofibromatosis type 1

• which chromosome?
• characteristic physical exam finding
• alternative name

Answer 7

cutaneous neurofibromas
chromosome 17
von Recklinghausen

Question 8

NF2 (neurofibromatosis type 2)

Answer 8

B/L acoustic schwannoma

chromosome 22

Question 9

WT1 and WT2

Answer 9

Wilms tumor

Question 10

VHL

Answer 10

von Hippel- Lindau

Question 11

TSC

Answer 11

tuberous sclerosis

Question 12

proto-oncogene

Answer 12

normal cellular gene that regulates cell proliferation and differentiation, can become oncogene if mutated

(requires only one mutation)
Onecogene

Question 13

oncogene

Answer 13

genes that promote autonomous cell growth in cancer cells by promoting cell growth in the absence of normal mitotic signals

oncoproteins produced from these genes are missing important regulatory elements

require mutations in 2 alleles (twomor suppressor)

Question 14

RAS oncogene

Answer 14

most common oncogene abnormality in human tumors

15-20% of all human tumors contain mutated versions of RAS proteins

Question 15

K-RAS

Answer 15

colon, lung, pancreatic tumors (Kolon, panKreatic)

Question 16

H-RAS

Answer 16

bladder and kidney tumors (Hematuria)

Question 17

N-RAS

Answer 17

melanomas, hematologic malignancies, follicular thyroid cancer

Question 18

RET

Answer 18

neurotrophic growth factor receptor, constitutively active when mutated (TKR)

associated with MEN2A, 2B (adrenal glands and thyroid)

• pheochromocytoma
• medullary thyroid cancer

also associated with papillary carcinoma of the thyroid

Question 19

HER2/neu (c-erbB2)

Answer 19

breast cancer
ovarian cancer
gastric cancer

Question 20

C-myc

Answer 20

Burkitt lymphoma

Question 21

L-myc

Answer 21

Lung tumors

Question 22

N-myc

Answer 22

neuroblastoma

Question 23

most common cancers in men

Answer 23

1. prostate
2. lung
3. colon

Question 24

most common cancer deaths in men

Answer 24

1. lung
2. prostate
3. colon
4. pancreatic

Question 25

most common cancer incidence in females

Answer 25

1. breast 2. lung 3. uterine 3. colon

Question 26

most common cancer deaths in females

Answer 26

1. lung 2. breast 3. colon 4. pancreas

Question 27

primary prevention- cancer

Answer 27

``` smoking obesity poor diet inactivity sun exposure ```

Question 28

lung cancer screening

Answer 28

annual chest CT in adults 55-80 who have a 30-pack year history of smoking don't screen if the patient quite more than 15 years ago

Question 29

breast cancer screening

Answer 29

mammogram every 2 years from 50-75

Question 30

cervical cancer screening

Answer 30

Pap smear every 3 years from 21-65

Question 31

prostate cancer screening

Answer 31

PSA or DRE optional

Question 32

colon cancer screening

Answer 32

colonoscopy starting at 50yo, every 10 years until 75yo flex sig every 5 years FOBT every year

Question 33

lung cancer

Answer 33

annual CT CT if quit within 15 yrs and at least 30 pack year smoking history, from ages 55-80

Question 34

PSA

Answer 34

prostate cancer, BPH, trauma

Question 35

CA125

Answer 35

ovarian cancer | peritoneal irritation

Question 36

Alkaline phosphatase

Answer 36

bone mets biliary disease paget disease of bone

Question 37

AFP

Answer 37

hepatocellular carcinoma

Question 38

CA19-9

Answer 38

pancreatic cancer

Question 39

CEA

Answer 39

colon cancer | pancreatic cancer

Question 40

S-100

Answer 40

melanoma, schwannoma

Question 41

Tartrate- resistant acid phosphatase (TRAP)

Answer 41

hairy cell leukemia, a type of CLL

Question 42

pancreatic cancer tumor marker

Answer 42

CA19-9, CEA