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BOARD Exam > Week 4: Cancer Genetics > Flashcards

Week 4: Cancer Genetics Flashcards

1
Q

What is the purpose of oncotype Dx?

A

Recurrence score generated to determine the benefit of chemotherapy

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2
Q

Which models can be used for a risk assessment for breast cancer

A

Gail and Claus model

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3
Q

What are some Prior Probability models

A

BOADICEA, Tyrer-Cuzik, BRCAPro

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4
Q

What does the Gail model include in it’s assessment

A

Age, reproductive history, benign breast disease history, breast cancer in mother/sisters

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5
Q

What does the Claus model include in it’s assessment

A

family history of breast cancer

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6
Q

What does the Gail model not include in its assessment

A

Non-breast cancers, SDR, paternal history, age at dx in relatives

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7
Q

What does the Claus model not include in it’s assessment

A

Can’t put in all types of relationships- need to adjust; doesn’t include reproductive history etc

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8
Q

In the setting of a known mutation, what testing should be given to AJ patients

A

All 3 founder mutations!

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9
Q

Lifetime risk of breast cancer with BRCA1/2 mutations

A

50-80%

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10
Q

Lifetime risk of ovarian cancer in BRCA1 carrier

A

30-45%

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11
Q

Lifetime risk of ovarian cancer in BRCA2 carrier

A

10-20%

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12
Q

Breast screening for BRCA1/2 mutation carriers

A

Mammogram and breast MRI annually

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13
Q

Aromatase inhibitors can only be used in what women?

A

Post-menopausal

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14
Q

Tamoxifen must be used for how long to help reduce the risk of a second breast cancer

A

5 years

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15
Q

Prominent tumors in BRCA1/2 Carriers

A

Breast, Ovarian, prostate

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16
Q

Prominent tumors in LFS

A

Breast, Brain, ACC, Sarcoma

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17
Q

Lifetime risk of cancer with LFS in women and men

A

90%; 75%

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18
Q

Prominent tumors in Cowden Syndrome

A

Breast, Thyroid, Uterine

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19
Q

Lifetime risk of breast cancer in Cowden

A

25-50%

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20
Q

What is the skin triad observed in Cowden Syndrome

A

Trichilemmomas and papillomataous papules, sacral keratoses, mucocutaneous neuromas

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21
Q

Gene for LFS

A

TP53

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22
Q

Gene for HBOC

A

BRCA1/2

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23
Q

Gene for Cowden Syndrome

A

PTEN

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24
Q

Prominent cancer risk with CHEK2 mutation

A

Breast

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25
Q

Prominent tumor risk in PALB2

A

Breast, Pancreas

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26
Q

Prominent tumor risk in ATM heterozygotes

A

Breast

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27
Q

Genes in Lynch Syndrome

A

MLH1, MSH2, MSH6, PMS2, EPCAM

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28
Q

Lifetime risk for CRC with Lynch syndrome

A

70%

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29
Q

Colonoscopy and Upper Endoscopy for Lynch syndrome- starting age and frequency

A

20-25; every 1-2 years

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30
Q

Definition of HNPCC

A

Families that meet Amsterdam criteria

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31
Q

Definition of Lynch Syndrome

A

Families with gremlin MMR gene mutations

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32
Q

Definition of Familial Colon Cancer Syndrome X

A

HNPCC families without a germline MMR mutation or phenotype of Lynch

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33
Q

Muir Torre Syndrome

A

HNPCC features with sebaceous carcinomas and Keratocanthomas

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34
Q

Turcot Syndrome

A

MMR mutations associated with glioblastoma ; APC mutations associated with medullablastoma

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35
Q

Amsterdam Criteria

A

3 or more relatives with CRC in the family (one FDR of other 2); 2 or more generations affected; 1 CRC by age 50

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36
Q

What percent of Lynch syndrome tumors have MSI

A

95%

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37
Q

What percent of sporadic tumors have MSI

A

10-15%

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38
Q

Gene for FAP

A

APC

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39
Q

Prominent tumor in FAP

A

CRC

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40
Q

Lifetime risk of CRC in FAP

A

100%

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41
Q

Colonoscopy and Endoscopy starting at what age and frequency in FAP

A

10-12; every 12 months

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42
Q

Gardener’s Syndrome

A

Desmoid tumors and osteomas; supernumerary teeth; CHRPE; soft tissue skin tumors

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43
Q

Gene for MYH-Associated Polyposis

A

MUTYH

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44
Q

Prominent tumors in MUTYH-associated polyposis

45
Q

Lifetime risk of MUTYH-associated polyposis

46
Q

MUTYH-associated polyposis screening

A

Colonoscopy: 25-30, every 1-2 years; Endoscopy: 30-35, every 3-5 years

47
Q

Peutz-Jegher gene

48
Q

Prominent tumors in Peutz-Jegher

A

Breast, Colon, Pancreas, Stomach

49
Q

Lifetime risk of breast cancer in Peutz-Jegher

50
Q

What features would someone with Peutz Jegher have?

A

Hyperpigmented spots on mouth/fingers/toes; freckling on lips; GI bleeding/bowel obstruction

51
Q

Genes in juvenile polyposis syndrome

A

BMPR1A, SMAD4

52
Q

Prominent tumor risks in Juvenile polyposis syndrome

A

Colon, gastric, small bowel cancer

53
Q

Lifetime risk of colon cancer with Juvenile polyposis syndrome

54
Q

For Juvenile Polyposis: colonoscopy, upper endoscopy, and CBC starting at what age and frequency

A

15, every 3 years

55
Q

Gene for Hereditary diffuse gastric cancer

56
Q

Prominent tumors in hereditary diffuse gastric cancer

A

Diffuse gastric cancer, lobular breast cancer

57
Q

Recommended management for hereditary diffuse gastric cancer

A

total gastrectomy

58
Q

Gene for VHL

59
Q

Prominent tumors in VHL

A

Hemangiomas, Pheochromocytoma, Renal cancer

60
Q

Lifetime risk of renal cancer with VHL

61
Q

Gene in MEN1

62
Q

Best way to test for MEN1

A

Check parathyroid hormone and Ca levels

63
Q

Prominent tumors in MEN1

A

Parathyroid, Pituitary, GEP

64
Q

Lifetime risk of parathyroid cancer in MEN1

65
Q

Gene in MEN2

66
Q

Prominent tumor in MEN2

A

Medullary thyroid, pheochromocytoma

67
Q

MEN2B most common mutation

68
Q

Clinical features of MEN2A

A

Hyperparathyroidism; may present with cutaneous lichen amyloidosis

69
Q

Clinical features of MEN2B

A

Hyperparathyroidism, Marfanoid habitus

70
Q

Gene in Carney Complex

71
Q

Carney Triad

A

Gastric leiomyosarcoma, Pulmonary chondroma, adrenal adenoma

72
Q

Gene for Birt Hogg Dube

73
Q

Prominent tumor in Birt Hogg Dube

A

Renal cell

74
Q

Clinical Features in Birt Hogg Dube

A

Fibrofolliculomas, pulmonary cysts, spontaneous pneuomothorax

75
Q

Gene for hereditary leiomyomatosis renal cell carcinoma

76
Q

Prominent tumor in leiomyomatosis renal cell carcinoma

A

Renal cell, uterine leiomyosarcoma

77
Q

Gene for Hereditary papillary renal cell cancer

78
Q

Prominent tumors in hereditary papillary renal cell cancer

79
Q

Gene in TSC

A

TSC1, TSC2

80
Q

Prominent tumors in TSC

A

Subependymal nodules, subependymal giant cell astrocytomas, angiomyolipomas, renal cancer

81
Q

What organ systems are affected in TSC

A

Skin, Brain, Renal, Cardiac, Lung

82
Q

Genes in Familial atypical multiple mole melanoma

A

CDKN2A, CDK4

83
Q

Prominent tumor risk in FAMMM

A

Melanoma, pancreas

84
Q

Gene in NF1

85
Q

Prominent tumors in NF1

A

Neurofibromas, malignant peripheral nerve sheath tumors, optic gliomas

86
Q

Gene for Gorlin Syndrome

87
Q

Prominent tumor in Gorlin Syndrome

88
Q

Clinical Features in Gorlin Syndrome

A

Lamellar calcification of the falx, jaw keratocyst, palmar/plantar pits

89
Q

Gene in NF2

A

NF2 (merlin)

90
Q

Prominent tumor risk in NF2

A

Bilateral vestibular Schwannomas

91
Q

Schwannomatosis gene

A

INI, SMARCB1

92
Q

Prominent tumors in Schwannmatosis

A

Dermal and internal schwannomas

93
Q

Gene for retinoblastoma

94
Q

Tumor risks in Retinoblastoma

A

Retinoblastoma, pinealoma, osteosarcomas, soft tissue sarcomas, melanoma

95
Q

Gene in Wilm’s Tumor

A

FWT1, FWT2

96
Q

Gene in Constitutional Mismatch Repair Deficiency

97
Q

Clinical features of constitutional mismatch repair deficiency

A

Very early onset CRC, duodenal cancer, leukemia/lymphoma, childhood brain tumours, CALs

98
Q

Inheritance of Fanconi Anemia

99
Q

3 major features of Fanconi Anemia

A

Short stature, BM failure, Cancer- AML

100
Q

Inheritance of Ataxia telangiectasia

101
Q

4 major features of ataxia telangiectasia

A

Progressive cerebellar ataxia, telangiectasis, radiation sensitivity, increased risk of leukemia/lymphoma

102
Q

Inheritance of Xeroderma Pigmentosa

103
Q

3 major features of Xeroderma Pigmentosa

A

BCC (other skin cancers), extreme photosensitivity, premature skin aging

104
Q

Inheritance of Bloom syndrome

105
Q

3 major features of Bloom syndrome

A

Short stature, butterfly-shaped patch of red skin across cheeks, increased risk for cancer

106
Q

Gene in Nijmegen Breakage Syndrome

107
Q

Inheritance of Nijmegen Breakage Syndrome

108
Q

Cancer risks in Nijmegen Breakage Syndrome

A

Non-hodgkin’s lymphoma, brain tumors, other

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