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Genetics 2 > Cancer Genetics > Flashcards

Cancer Genetics Flashcards

Exam 2

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1
Q

Gene mutation is inherited in family; significantly increased cancer risk

A

Hereditary

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2
Q

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

A

familial

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3
Q

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

A

sporadic

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4
Q

loss of normal growth control

A

cancer

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5
Q

cancer is caused by a

A

cascade of genetic alterations

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6
Q

two acquired mutations

A

sporadic cancer

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7
Q

one inherited, one acquired mutation

A

hereditary cancer

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8
Q

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

A

Cancer

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9
Q

promote cell growth

A

oncogenes

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10
Q

inhibit cell cycle and promote apoptosis

A

suppressor genes

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11
Q

correct replication errors

A

mismatch repair genes

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12
Q

tumor suppressor genes

A

restrain cell growth

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13
Q

mismatch repair genes

A

maintain correct DNA sequences

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14
Q

Mismatch repair genes (3)

A

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

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15
Q

Tumor suppressor genes (4)

A

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

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16
Q

loss of both copies needed to cause cancer

A

loss of function

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17
Q

a single somatic gene mutation can cause cancer

A

gain of function

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18
Q

oncogenes is a

A

gain of function

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19
Q

Oncogenes (3)

A

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

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20
Q

RET

A

lung, multiple endocrine neoplasia

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21
Q

BCR-ABL

A

leukemia

22
Q

HRAS

A

costello

23
Q

Higher cancer risk is inherited as an

A

Autosomal Dominant trait

24
Q

Hareditary cancer associated with (2)

A

(1) incomplete penetrance (2) variable expressivity

25
Q

hereditary cancer red flags

A

combinations of certain cancer

26
Q

multiple genes can increase the risk of a

A

single cancer

27
Q

can be associated with a single genes

A

multiple cancers

28
Q

General Population: Breast

A

12%

29
Q

General Population: ovarian

A

1-2%

30
Q

General Population: male breast

A

.10%

31
Q

General Population: prostate in erupean vs african American

A

European- 15% African American- 18%

32
Q

General Population: pancreatic

A

.50%

33
Q

BRCA1/BRCA2: Breast

A

50-80%/ 40-70%

34
Q

BRCA1/BRCA2: ovarian

A

24-40%/ 11-18%

35
Q

BRCA1/BRCA2: male breast

A

1-2%/ 5-10%

36
Q

BRCA1/BRCA2: prostate

A

30%/ 39%

37
Q

BRCA1/BRCA2: pancreatic

A

1-3%/ 2-7%

38
Q

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

A

triple negative breast cancer

39
Q

more children increased risk for

A

BRCA1

40
Q

colorectal cancer: normal epi.—-> adenoma

A

APC

41
Q

colorectal cancer: adenoma—> late adenoma

A

K-ras

42
Q

colorectal cancer: late adenoma ——> early cancer

A

p53

43
Q

colorectal cancer: optimum phase for early detection

A

late adenoma—>early cancer 2-5 years

44
Q

associated in size and dysplasia

A

K-ras

45
Q

lynch syndrome

A

colorectal cancer

46
Q

limitations of unknown significance

A

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

47
Q

who is the most informative person to test?

A

Person B

48
Q

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

A

25%

49
Q

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

A

No

50
Q

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

A

E.None of the above

Genetics 2 (7 decks)

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