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H/O RC > Genetic Predisposition > Flashcards

Genetic Predisposition Flashcards

1
Q

define penetrance

A

people with pathogenic variant who go on to develop cancer

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2
Q

define genetic anticipation

A

age of cancer onset decreases in subsequent generations

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3
Q

LFS gene, inh, diseases, screening

A

TP53
AD

osteosarcoma
ACC
Anaplastic ERMS
CPC
Breast cancer
hypodiploid B-ALL
glioma
medullo
WT

annual whole body and brain MRI
AUS q3-4mo
annual skin exam

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4
Q

Rothmund-Thomson Syndrome gene, inh, diseases, features

A

RECQL4 aut rec

osteosarcoma

facial rash, short stature, sparse hair, skeletal anom

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5
Q

Hereditary pheo/paraganglioma syndrome

A

SDHA-D

pheo
RCC
papillary thyroid carcinoma
pituitary adenoma
GIST

whole body MRI yearly start 6yo
annual metanephrines, BP

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6
Q

DICER1 inh, disease, monitoring

A

DICER1
AD

PPB
cystic nephroma
sertoli-Leydig cell tumor ovary
papillary/follicular thyroid
ERMS
gynandroblastoma
pineoblastoma
pituitary blastoma
WT

chest CT 3-6mo then 3yo
CXR and AUS q6mo until 8yo then q1y
thyroid US q3y start 8yo

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7
Q

FAP

A

APC
AD

medullo
HGG (GBM)
hepatoblastoma
thyroid cancer
abdominal desmoid tumors
CNS embryonal tumor
colon cancer

4/y AFP and AUS until 4yo
colonoscopy 12yo

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8
Q

hereditary neuroblastoma

A

PHOX2B
ALK activating
RASopathies

AUS, HVA/VMA, CXR 4/y until 6yo then q6mo until 10yo

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9
Q

Bloom

A

BLM aut rec

WT
Colon
Breast
Leukemia
osteo

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10
Q

Rhabdoid tumor predisposition type II

A

SMARCA4
AD

SCCOHT
Rare ATRT

pelvic US q3-6mo

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11
Q

Noonan

A

PTPN11, SOS1, RAF1, KRAS
AD

JMML
ALL

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12
Q

AT

A

ATM (aut rec)

T cell L/L, DLBCL
carcinomas (breast, gastric thyroid, liver)
gliomas

30-40% lifetime risk

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13
Q

Nijmegen Breakage

A

NBN (aut rec)

T cell L/L, DLBCL
RMS
CNS: glioma, meningioma
thyroid carcinoma

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14
Q

Familial plt disorder with associated myeloid malignancy

A

RUNX1
AD

MDS/AML 35-40% risk

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15
Q

Thrombocytopenia 5

A

ETV6
AD

B-ALL (hyperdiploid)
MDS/AML

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16
Q

NF1 criteria

A

cafe au lait
axillary freckling
2 Lisch nodules (iris hamartomas)
2 neurofibromas or 1 PN
osseous lesion
optic glioma
1st degree relative

17
Q

TS criteria

A

cortical tuber
subependymal nodules
subependymal giant cell astrocytoma
facial angiofibroma or forehead plaque
ungal fibroma
hypomelanotic macules
Shagreen patch
multiple retinal hamartomas
cardiac rhabdomyoma
renal angiomyolipoma
pulmonary lymphangioleiomyomatosis

18
Q

Griscelli Syndrome

A

hypopig, silver/gray hair
HSM
neutropenia, thrombocytopenia

HLH
Immunodeficiency

mutations in myosin A, RAB27A, MYO5A

Tx: HSCT

19
Q

CMMRD

A

constitutional mismatch repair deficiency syndrome

MMR gene mutations - MSH2, MSH6, MLH1, PMS2

malig: leuk, HGG, colon

20
Q

Medullo predisposition

A

FAP
Gorlin
LFS
Rubinstein Taybi
FAA

21
Q

ATRT predisposition

A

SMARCB1 (I)
SMARCA4 (II)

22
Q

Pineoblastoma predisposition

A

DICER1
RB1

23
Q

Osteosarcoma predisposition

A

RB1
LFS
Rothmund-Thomson
Bloom
Werner

24
Q

Wilms predisposition

A

Familial WT1
BWS
WAGR
Denys-Drash
Frasier
Perlman
PIK3CA overgrowth
FA
DICER-1
LFS

25
Q

NBl predisposition

A

familial ALK, PHOX2B
Turner
NF1
BWS
LFS
Noonan

26
Q

HB predisposition

A

BWS
Gardner
Glycogen storage
FAP
VLBW

27
Q

HCC predisposition

A

alpha 1 AT
hereditary tyrosinemia
glycogen storage
hemochromatosis
biliary cirrhosis
FAP
Alagille
NF1
AT
FA

28
Q

extracranial GCT predisposition

A

Klinefelter
Turner
Swyer
Frasier
Denys-Drash
T21A

29
Q

ALL predisposition

A

T21
LFS
AT
ETV6
RUNX1

30
Q

AML predisposition

A

T21
IBMFS/MDS
AT
Bloom
LFS
therapy-related

31
Q

JMML predisposition

A

Noonan
NF1

32
Q

NHL predisposition

A

PID: CHS, CVID, HyperIgM, SCID, XLA
AT
Bloom

H/O RC (31 decks)

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