Cancer Genetics

Question 1

Gene mutation is inherited in family; significantly increased cancer risk

Answer 1

Hereditary

Question 2

Multiple genes & environmental factors may be involved; some increase in cancer risk

Answer 2

familial

Question 3

cancer occurs by chance or related to environmental factors; general population cancer risk

Answer 3

sporadic

Question 4

loss of normal growth control

Answer 4

cancer

Question 5

cancer is caused by a

Answer 5

cascade of genetic alterations

Question 6

two acquired mutations

Answer 6

sporadic cancer

Question 7

one inherited, one acquired mutation

Answer 7

hereditary cancer

Question 8

if first hit is a germline mutation, second somatic mutation more likely to enable

Answer 8

Cancer

Question 9

promote cell growth

Answer 9

oncogenes

Question 10

inhibit cell cycle and promote apoptosis

Answer 10

suppressor genes

Question 11

correct replication errors

Answer 11

mismatch repair genes

Question 12

tumor suppressor genes

Answer 12

restrain cell growth

Question 13

mismatch repair genes

Answer 13

maintain correct DNA sequences

Question 14

Mismatch repair genes (3)

Answer 14

(1) MLH1 (2) MSH2 (3) MSH6

Question 15

Tumor suppressor genes (4)

Answer 15

(1) Rb (2) NF1 (3) p53 (4) APC

Question 16

loss of both copies needed to cause cancer

Answer 16

loss of function

Question 17

a single somatic gene mutation can cause cancer

Answer 17

gain of function

Question 18

oncogenes is a

Answer 18

gain of function

Question 19

Oncogenes (3)

Answer 19

(1) RET (2) BCR-ABL (3) HRAS

Question 20

RET

Answer 20

lung, multiple endocrine neoplasia

Question 21

BCR-ABL

Answer 21

leukemia

Question 22

HRAS

Answer 22

costello

Question 23

Higher cancer risk is inherited as an

Answer 23

Autosomal Dominant trait

Question 24

Hareditary cancer associated with (2)

Answer 24

(1) incomplete penetrance (2) variable expressivity

Question 25

hereditary cancer red flags

Answer 25

combinations of certain cancer

Question 26

multiple genes can increase the risk of a

Answer 26

single cancer

Question 27

can be associated with a single genes

Answer 27

multiple cancers

Question 28

General Population: Breast

Answer 28

12%

Question 29

General Population: ovarian

Answer 29

1-2%

Question 30

General Population: male breast

Answer 30

.10%

Question 31

General Population: prostate in erupean vs african American

Answer 31

European- 15% African American- 18%

Question 32

General Population: pancreatic

Answer 32

.50%

Question 33

BRCA1/BRCA2: Breast

Answer 33

50-80%/ 40-70%

Question 34

BRCA1/BRCA2: ovarian

Answer 34

24-40%/ 11-18%

Question 35

BRCA1/BRCA2: male breast

Answer 35

1-2%/ 5-10%

Question 36

BRCA1/BRCA2: prostate

Answer 36

30%/ 39%

Question 37

BRCA1/BRCA2: pancreatic

Answer 37

1-3%/ 2-7%

Question 38

all three receptors: BRCA, progesterone, estrogene are not working

Answer 38

triple negative breast cancer

Question 39

more children increased risk for

Answer 39

BRCA1

Question 40

colorectal cancer: normal epi.----\> adenoma

Answer 40

APC

Question 41

colorectal cancer: adenoma---\> late adenoma

Answer 41

K-ras

Question 42

colorectal cancer: late adenoma ------\> early cancer

Answer 42

p53

Question 43

colorectal cancer: optimum phase for early detection

Answer 43

late adenoma---\>early cancer 2-5 years

Question 44

associated in size and dysplasia

Answer 44

K-ras

Question 45

lynch syndrome

Answer 45

colorectal cancer

Question 46

limitations of unknown significance

Answer 46

-variants of unknown significance - negative test result mutation increases cancer -suspetibility

Question 47

who is the most informative person to test?

Answer 47

Person B

Question 48

2.What is our patient’s risk for having inherited the same BRCA2 variant?

Answer 48

25%

Question 49

3.Would you test our patient for the TP53 variant?

Answer 49

No

Question 50

4.For the paternal side of the family: Which of the following is not considered a red flag for a hereditary cancer syndrome? A.Colon cancer diagnosed at 48y B.Ovarian cancer diagnosed at 79y C.Ashkenazi Jewish ancestry D.Combination of cancers E.None of the above

Answer 50

E.None of the above