Genetic Predisposition Flashcards
define penetrance
people with pathogenic variant who go on to develop cancer
define genetic anticipation
age of cancer onset decreases in subsequent generations
LFS gene, inh, diseases, screening
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
Rothmund-Thomson Syndrome gene, inh, diseases, features
RECQL4 aut rec
osteosarcoma
facial rash, short stature, sparse hair, skeletal anom
Hereditary pheo/paraganglioma syndrome
SDHA-D
pheo
RCC
papillary thyroid carcinoma
pituitary adenoma
GIST
whole body MRI yearly start 6yo
annual metanephrines, BP
DICER1 inh, disease, monitoring
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
FAP
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
hereditary neuroblastoma
PHOX2B
ALK activating
RASopathies
AUS, HVA/VMA, CXR 4/y until 6yo then q6mo until 10yo
Bloom
BLM aut rec
WT
Colon
Breast
Leukemia
osteo
Rhabdoid tumor predisposition type II
SMARCA4
AD
SCCOHT
Rare ATRT
pelvic US q3-6mo
Noonan
PTPN11, SOS1, RAF1, KRAS
AD
JMML
ALL
AT
ATM (aut rec)
T cell L/L, DLBCL
carcinomas (breast, gastric thyroid, liver)
gliomas
30-40% lifetime risk
Nijmegen Breakage
NBN (aut rec)
T cell L/L, DLBCL
RMS
CNS: glioma, meningioma
thyroid carcinoma
Familial plt disorder with associated myeloid malignancy
RUNX1
AD
MDS/AML 35-40% risk
Thrombocytopenia 5
ETV6
AD
B-ALL (hyperdiploid)
MDS/AML
NF1 criteria
cafe au lait
axillary freckling
2 Lisch nodules (iris hamartomas)
2 neurofibromas or 1 PN
osseous lesion
optic glioma
1st degree relative
TS criteria
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
Griscelli Syndrome
hypopig, silver/gray hair
HSM
neutropenia, thrombocytopenia
HLH
Immunodeficiency
mutations in myosin A, RAB27A, MYO5A
Tx: HSCT
CMMRD
constitutional mismatch repair deficiency syndrome
MMR gene mutations - MSH2, MSH6, MLH1, PMS2
malig: leuk, HGG, colon
Medullo predisposition
FAP
Gorlin
LFS
Rubinstein Taybi
FAA
ATRT predisposition
SMARCB1 (I)
SMARCA4 (II)
Pineoblastoma predisposition
DICER1
RB1
Osteosarcoma predisposition
RB1
LFS
Rothmund-Thomson
Bloom
Werner
Wilms predisposition
Familial WT1
BWS
WAGR
Denys-Drash
Frasier
Perlman
PIK3CA overgrowth
FA
DICER-1
LFS
NBl predisposition
familial ALK, PHOX2B
Turner
NF1
BWS
LFS
Noonan
HB predisposition
BWS
Gardner
Glycogen storage
FAP
VLBW
HCC predisposition
alpha 1 AT
hereditary tyrosinemia
glycogen storage
hemochromatosis
biliary cirrhosis
FAP
Alagille
NF1
AT
FA
extracranial GCT predisposition
Klinefelter
Turner
Swyer
Frasier
Denys-Drash
T21A
ALL predisposition
T21
LFS
AT
ETV6
RUNX1
AML predisposition
T21
IBMFS/MDS
AT
Bloom
LFS
therapy-related
JMML predisposition
Noonan
NF1
NHL predisposition
PID: CHS, CVID, HyperIgM, SCID, XLA
AT
Bloom
