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Amy's Updated Board Exam Deck > 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
Prominent tumor risk in PALB2
Breast, Pancreas
26
Prominent tumor risk in ATM heterozygotes
Breast
27
Genes in Lynch Syndrome
MLH1, MSH2, MSH6, PMS2, EPCAM
28
Lifetime risk for CRC with Lynch syndrome
70%
29
Colonoscopy and Upper Endoscopy for Lynch syndrome- starting age and frequency
20-25; every 1-2 years
30
Definition of HNPCC
Families that meet Amsterdam criteria
31
Definition of Lynch Syndrome
Families with gremlin MMR gene mutations
32
Definition of Familial Colon Cancer Syndrome X
HNPCC families without a germline MMR mutation or phenotype of Lynch
33
Muir Torre Syndrome
HNPCC features with sebaceous carcinomas and Keratocanthomas
34
Turcot Syndrome
MMR mutations associated with glioblastoma ; APC mutations associated with medullablastoma
35
Amsterdam Criteria
3 or more relatives with CRC in the family (one FDR of other 2); 2 or more generations affected; 1 CRC by age 50
36
What percent of Lynch syndrome tumors have MSI
95%
37
What percent of sporadic tumors have MSI
10-15%
38
Gene for FAP
APC
39
Prominent tumor in FAP
CRC
40
Lifetime risk of CRC in FAP
100%
41
Colonoscopy and Endoscopy starting at what age and frequency in FAP
10-12; every 12 months
42
Gardener's Syndrome
Desmoid tumors and osteomas; supernumerary teeth; CHRPE; soft tissue skin tumors
43
Gene for MYH-Associated Polyposis
MUTYH
44
Prominent tumors in MUTYH-associated polyposis
CRC
45
Lifetime risk of MUTYH-associated polyposis
70%
46
MUTYH-associated polyposis screening
Colonoscopy: 25-30, every 1-2 years; Endoscopy: 30-35, every 3-5 years
47
Peutz-Jegher gene
STK11
48
Prominent tumors in Peutz-Jegher
Breast, Colon, Pancreas, Stomach
49
Lifetime risk of breast cancer in Peutz-Jegher
54%
50
What features would someone with Peutz Jegher have?
Hyperpigmented spots on mouth/fingers/toes; freckling on lips; GI bleeding/bowel obstruction
51
Genes in juvenile polyposis syndrome
BMPR1A, SMAD4
52
Prominent tumor risks in Juvenile polyposis syndrome
Colon, gastric, small bowel cancer
53
Lifetime risk of colon cancer with Juvenile polyposis syndrome
39%
54
For Juvenile Polyposis: colonoscopy, upper endoscopy, and CBC starting at what age and frequency
15, every 3 years
55
Gene for Hereditary diffuse gastric cancer
CDH1
56
Prominent tumors in hereditary diffuse gastric cancer
Diffuse gastric cancer, lobular breast cancer
57
Recommended management for hereditary diffuse gastric cancer
total gastrectomy
58
Gene for VHL
VHL
59
Prominent tumors in VHL
Hemangiomas, Pheochromocytoma, Renal cancer
60
Lifetime risk of renal cancer with VHL
40%
61
Gene in MEN1
MEN1
62
Best way to test for MEN1
Check parathyroid hormone and Ca levels
63
Prominent tumors in MEN1
Parathyroid, Pituitary, GEP
64
Lifetime risk of parathyroid cancer in MEN1
99%
65
Gene in MEN2
RET
66
Prominent tumor in MEN2
Medullary thyroid, pheochromocytoma
67
MEN2B most common mutation
Met918Thr
68
Clinical features of MEN2A
Hyperparathyroidism; may present with cutaneous lichen amyloidosis
69
Clinical features of MEN2B
Hyperparathyroidism, Marfanoid habitus
70
Gene in Carney Complex
PRKAR1A
71
Carney Triad
Gastric leiomyosarcoma, Pulmonary chondroma, adrenal adenoma
72
Gene for Birt Hogg Dube
FLCN
73
Prominent tumor in Birt Hogg Dube
Renal cell
74
Clinical Features in Birt Hogg Dube
Fibrofolliculomas, pulmonary cysts, spontaneous pneuomothorax
75
Gene for hereditary leiomyomatosis renal cell carcinoma
FH
76
Prominent tumor in leiomyomatosis renal cell carcinoma
Renal cell, uterine leiomyosarcoma
77
Gene for Hereditary papillary renal cell cancer
MET
78
Prominent tumors in hereditary papillary renal cell cancer
Renal
79
Gene in TSC
TSC1, TSC2
80
Prominent tumors in TSC
Subependymal nodules, subependymal giant cell astrocytomas, angiomyolipomas, renal cancer
81
What organ systems are affected in TSC
Skin, Brain, Renal, Cardiac, Lung
82
Genes in Familial atypical multiple mole melanoma
CDKN2A, CDK4
83
Prominent tumor risk in FAMMM
Melanoma, pancreas
84
Gene in NF1
NF1
85
Prominent tumors in NF1
Neurofibromas, malignant peripheral nerve sheath tumors, optic gliomas
86
Gene for Gorlin Syndrome
PTCH
87
Prominent tumor in Gorlin Syndrome
BCC
88
Clinical Features in Gorlin Syndrome
Lamellar calcification of the falx, jaw keratocyst, palmar/plantar pits
89
Gene in NF2
NF2 (merlin)
90
Prominent tumor risk in NF2
Bilateral vestibular Schwannomas
91
Schwannomatosis gene
INI, SMARCB1
92
Prominent tumors in Schwannmatosis
Dermal and internal schwannomas
93
Gene for retinoblastoma
RB1
94
Tumor risks in Retinoblastoma
Retinoblastoma, pinealoma, osteosarcomas, soft tissue sarcomas, melanoma
95
Gene in Wilm's Tumor
FWT1, FWT2
96
Gene in Constitutional Mismatch Repair Deficiency
PMS2
97
Clinical features of constitutional mismatch repair deficiency
Very early onset CRC, duodenal cancer, leukemia/lymphoma, childhood brain tumours, CALs
98
Inheritance of Fanconi Anemia
AR
99
3 major features of Fanconi Anemia
Short stature, BM failure, Cancer- AML
100
Inheritance of Ataxia telangiectasia
AR
101
4 major features of ataxia telangiectasia
Progressive cerebellar ataxia, telangiectasis, radiation sensitivity, increased risk of leukemia/lymphoma
102
Inheritance of Xeroderma Pigmentosa
AR
103
3 major features of Xeroderma Pigmentosa
BCC (other skin cancers), extreme photosensitivity, premature skin aging
104
Inheritance of Bloom syndrome
AR
105
3 major features of Bloom syndrome
Short stature, butterfly-shaped patch of red skin across cheeks, increased risk for cancer
106
Gene in Nijmegen Breakage Syndrome
NBN
107
Inheritance of Nijmegen Breakage Syndrome
AR
108
Cancer risks in Nijmegen Breakage Syndrome
Non-hodgkin's lymphoma, brain tumors, other

Amy's Updated Board Exam Deck (30 decks)

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