Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Boards > cancer predisposition > Flashcards

cancer predisposition Flashcards

1
Q

penetrance

A

of people with a pathogenic variant who develop cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

expressiviity

A

how many cancers a pathogenic variant can produce

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

name 7 cancers that people with NF1 are st risk for BESIDES CNS tumors

A

MPNST, leukemia- especially JMML, neuroblastoma, GIST (GI stromal tumors), + duodenal carcinoid, plexiform neurofibromas, pheochromocytoma, embryonal rhabdomyosarcoma
(Nicks grants pay plenty more, really love)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

NF1 screening

A

eye exam at 6-8 months until age 8. only do Brain MRI if you have concerns or can’t asess vision

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

NF2 screening

A

annual brain MRI starting at 10 and annual audiology evaluation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

when do NF2 patients usually get bilateral vestibular schwannomas

A

age 18-24, usually impact CN8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

intradermal schwannoma, retinal harmartoma, cotical wedge cataract is what syndrome

A

NF2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

which NF is iris hamartoma

A

NF1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

which NF is retinal hamartoma

A

NF2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Nevoid basal cell carcinoma sydrome- aka and 2 genes

A

gorlin- PTCH1 or SUFU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

most common CNS tumor from SUFU problems is

A

desmoplastic nodular medulloblastoma in Nevoid basal cel carcinoma syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

bifid ribs or wedge shaped vertebrae, macrocephaly, frontal bossing- what syndrome

A

nevoid cell carcinoma syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Von hippel lindau syndrome gene

A

VHL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

CNS tumor in VHL patients

A

hemangioblastoma and retinal angioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

number 1 cause of death for VHL patients

A

renal cell carcinoma- in 70% of patients

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

besides CNS and renal cell carcinoma, 2 other tumors to worry about in VHL

A

pheos, endodermal sinus tumor in ear

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

4 genes in constitutional mismatch repair defect

A

MSH2, MSH6, MLH1, and PMS2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inheritance- MMR ysndroe

A

recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

in MMR syndrome, both parents have

A

Ly ch

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is the CNS tumor in constitutional MMR

A

hyper mutated HGG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

2 cancers besides CNS in constitutional MMR

A

leukemia, colon cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what syndrome has cafe au lait macule and isn’t NF1

A

constitutional MMRD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

where is TP53

A

chromosome 17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

7 cancers in Li Fraumeni

A

osteosarcoma (especially under 10 years old), adrenocorticoid carcinoma (especially under 5), choroid plexus carcinoma, breast cancer hypo diploid ALL, gliomas
GAB CO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

2 syndromes that need annual whole body MRI

A

li fraumeni (TP53) and constitutional MMR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Gene: rothmud-thomson syndrome

A

RECQL4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

inheretance- rothmud-thomsom syndrome

A

recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

poikiloderma, sparse scalp hair, juvenille cataracts radial ray defects and osteosarcoma that is multi centric. syndrome?

A

rothmnd-thomson

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

gene- PTEN hamartoma syndrome and AKA name

A

PTEN, Cowden syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

5 tumors and most common for PTEN harmartoma syndrome

A

most common -papillary thyroid. also lipoma, GI harmartoma, breast cancer, endometrial cncer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

macrocephaly, intellectual disability, trichilemmoma (subcutaneous lumps), intestinal hamartomas (polyps)

A

PTEn-Hamartoma syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

MEN1 3 most common tumros - 3Ps

A

pancreatic neuroendocrine tumors, pituitary adenoma, parathyroid tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

common presentation for MEN1

A

primary hyperparathyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

MEN4 is similar to MEN1 but what gene

A

CDKN2a

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

MEN2A- what gene

A

RET- activating

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

MEN2a- 100% penetrance of what

A

medullary thyroid cancer.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

which is more common-MEN2A or 2B

A

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

only genetic alteration that causes MEN2B

A

RET in codon 918

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

100% penetrance of what in MEN2B

A

aggressive medullary thrydoid cancer, usually by age 1

40
Q

what MEN syndrome doesn’t usually have primary hyperparathyrodism

41
Q

what MEN- mucosa neuromas, intestinal ganglioneuromatosis, and marfanoid habitus

42
Q

Gene- Carney complex

43
Q

HALLMARK finding in Carney complex

A

lentigines- smal freckels, usually clustered in face and mouth

44
Q

5 key tumors to worry about in carney compolex

A

growth hormone secreting pituitary adenoma, differentiate thyroid cancer, cardiac myxomas, psamomatous melanotic schwanomas, large cell calcifying Sertoli cell tumors (ovaries or testes)

45
Q

what are two differentiated thyroid cancers

A

papillary or fololiculr

46
Q

hereditary pheochromocytoma/paraganglioma syndrome- genes

A

SDHx complex

47
Q

30% of pheos are attributed to

A

hereditary pheochromocytoma/paraganglioma syndrome

48
Q

hereditary pheochromocytoma/paraganglioma syndrome- which of the genes is most likely to metastatcize

A

SDHB (b- bad

49
Q

4 cancers in hereditary pheochromocytoma/paraganglioma syndrome besides a pheochromocytoma

A

renal cell carcinoma, papillary thyroid cancer, pituitary adenoma, GSIT

50
Q

hereditary neuroblastoma - 2 affected genes

A

PHOX2B and ALK (activating) all RASOpathies

51
Q

PHOx2B cause

A

congenital hypoventilation syndrome, hirschprungs, hereditary NBL

52
Q

key tumors for DICER1

A

PPPB, cystic nephroma, sertoli leading cell of ovary, differentiated thyroid, embryonal rhabdomyosarcoma (especially cervi, uterus, thorax or weird places), gynandroblastoma, pineoblastoma

53
Q

genes for wilms tumors predisposyndromes

A

WT1 or 11p15/5 loci

54
Q

5 syndromes to be aware of with WT predisposition

A

WAGR, denys-drash, frier, Perlman, boring-optiz syndrome

55
Q

what does WAGR stand for and why (what genes- names)

A

wilms tumor, aniridia, GU abnormalities, intellectual disability. This is WT1 + aPAX6

56
Q

gene denys-drash and key finding

A

WT1 exam 8 or 9. kidney diffuse mesangial sclerosis

57
Q

gene- Perlman syndrome

A

DIS3L2 gene

58
Q

key 3 features perlman

A

polydatylyl, fetal ascites, WT

59
Q

gene-= bohring-optiz syndrome, and phenotype

A

ASXL1- very sydnromic, intellectual disabilityH

60
Q

FH tumor predisposition syndrome is AKA

A

hereditary leiomyomatosis and renal cell carcinoma syndrome

61
Q

key gene in FH tumor predisposition

A

fumarate hydrates

62
Q

rhabdoid tumor predisposition type 2- gene and soldi tumor

A

small cell carcinoma of ovary (hypercalcemic) and rare ATRT. Gene- SMARCa4

63
Q

gene problem in BWS

A

imprinting on 11p15.5

64
Q

how to confirm BWS

A

DNA methylation profioe

65
Q

2 key solid tumors in BWS

A

hepatoblastoma, Wilms tumor

66
Q

BWS is similar to what other 2 syndromes in terms of screening

A

Simpson golabi behmel syndrome and trisomy 18

67
Q

FAP GENE

68
Q

Key tumors- FAP

A

COlon, hepatoblastoma (actually less than 23%), abdominal desmoid tumors used to be called Gardner syndrome), papillary thyroid

69
Q

FAP+ medullo is what syndrome

70
Q

what syndrome is similar to FAP but you get negative APC testing and no FH of polyps or colon cancer

A

MUTYH- recessive colon cancer predisposition syndrome

71
Q

gene- peut-jeghers syndrome

72
Q

key physical exam finding- peutz-jeghers syndrome

A

oral, peri-abnal, palmar, and plantar freckling

73
Q

2 cancers to think about with pout jeghers

A

colon and GU (ovarian/cervix vs testicular)

74
Q

when do you start colonoscopy or flex sig for peutz-jeghers

A
  1. if no polyps, go to age 18. if yes polyps, then q2-3 years
75
Q

colon cancer pedispo with classic story of intususception

A

peutz-jeghers

76
Q

2 genews- juvenile polyposis syndrome

A

BMPR1A, SMAD4

77
Q

GENE- NOONANS

78
Q

key physical exam findings- noonan

A

short stature, strabismus, pulmonary valve stenosis shield chest, short neck, high palate, low set ears

79
Q

caners- noonan

80
Q

gene- Ataxia telangiectasia and inheritance

A

ATM- autosomal recessive

81
Q

cancers- Ataxia gelangiectasa

A

leukemia (ALL) and lymphoma (non-hodgkin lymphoma)

82
Q

findings in kid with Ataxia telangiectasia

A

progressive neurodegenration, cerebellar ataxia, immunodeficiency, ocular cutaneous telangiectasia, diabetes mellitus, premature ovarian failure, progressive lung disease, elevated AFP

83
Q

besides leukemia and lymphoma, cancers for Ataxia telangiectasia?- 2 groups

A

carcinoma (breast, gastric, thyroid, liver) and glioma

84
Q

gene and inheritcnce- Nijmegen Breakage syndrome

A

NBN, rescessive

85
Q

leukemia and lymphomas you see in Nijmegen Breakage syndrome

A

T^ cell ALL, B cell NHL

86
Q

3 cancers besides of leukemia/lymphomas for Nijmegen Breakage syndrome

A

rHABDOMYOSARCOMA, BRAIN TUMORS, thyroid cancer

87
Q

leukemia predisposition syndrome- microcephaly, receding mandible, sloping forehead

A

Nijmegen Breakage syndrome

88
Q

gene and inheritance in Bloom

A

BLM, recessive3

89
Q

4 cancer types for bloom

A

heme, GI/colon, breast, WY

90
Q

leukemia predispo- poor growth, narrow head, butterfly rash on face, telangiectasis, cafe au last, photosensitivity (dramatic sunburns)

91
Q

familial platelet disorder with associated myeloid malignancy- gene and cancer

A

RUNX1. MDS/AML, can see monosomy syndrome, anticipation

92
Q

common presentation for familial platelet disorder with associated myeloid malignancy

A

mild low plts (in 50s), aspirin like platelet defect, can mimic ITP

93
Q

thrombocytopenia 5- gene and risks

A

ETV6, pre-BZ all (Hyperdiploid) and MDS/AML

94
Q

thrombocytopenia 2- name, leukemia type

A

ANKRD26 and aka that related thrombocytopenia. usually AML

95
Q

CEBPA associated familial AML- gene, how to identify on leukemia vs germlije

A

CEBPA, AML Leukemia should have 2 variants, gremlin has 1

96
Q

Risk for pheochromocytomas

A

NF1, VHL, MEN syndromes

97
Q

MEN2A

A

remember th letter C- 2C’s for each. Calcitonin (medullary caccinoma of they thyroid), calcium (parathyroid hyperplasia), catecholamines (pheos)

Boards (24 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions