Hereditary Cancer Syndrome - Genes Flashcards
p53
Li Fraumeni syndrome
MEN1
Multiple endocrine neoplasia type 1 (MEN1)
CDH1
Hereditary diffuse gastric cancer (HDGC)
BRCA1/BRCA2
Hereditary breast and ovarian cancer syndrome (HBOC)
FH
Hereditary leiomyotosis renal cell carcinoma (HLRCC)
MLH1, MSH2, MSH6, PMS2, EPCAM
Lynch syndrome (HNPCC)
RET
Multiple endocrine neoplasia type 2 (MEN2A and MEN2B); Familial medullary thyroid carcinoma (FMTC)
PTEN
Cowden syndrome
STK11/LKB1
Peutz-Jegher syndrome
VHL
Von Hippel Lindau disease
NF1
Neurofibromatosis type 1
SDHD
PGL1 (familial paraganglioma type 1)
SDHAF2
PGL2 (familial paraganglioma type 2)
SDHC
PGL3 (familial paraganglioma type 3)
SDHB
PGL4 (familial paraganglioma type 4)
SDHA
PLG5 (familial paraganglioma type 5)
TMEM127/MAX
Familial pheochromocytoma (Familial PC)
FLCN
Birt Hogg Dube (BHD)
Moderate penetrance breast cancer genes
CHEK2, PALB2, ATM
Gene(s) to consider for: Adrenocortical carcinoma
p53 (LFS)
Gene(s) to consider for: Carcinoid tumors
MEN1
Gene(s) to consider for: Diffuse gastric cancer
CDH1
Gene(s) to consider for: Fallopian tube and primary peritoneal cancer
BRCA1/BRCA2
Gene(s) to consider for: Leiomyosarcoma
FH, Lynch genes
Gene(s) to consider for: Medullary thyroid carcinoma (MTC)
RET (MEN2A/B, FMTC)
Gene(s) to consider for: Paraganglioma/pheochromocytoma (PGL/PC)
RET (MEN2), VHL, NF1, SDHx (hereditary PGL/PC), TMEM127, MAX (familial PC)
Gene(s) to consider for: Renal cell carcinoma - chromophobe
FLCN (Birt Hogg Dube)
Gene(s) to consider for: Sebaceous Carcinomas
Lynch genes
Gene(s) to consider for: Sex cord tumors with annular tubules
STK11 (PJS)
BMPR1A/SMAD4
Juvenile Polyposis syndrome
CDKN2A (p16)
Familial Atypical Multiple Mole Melanoma (FAMMM)
MUTYH
MUTYH-Associated Polyposis (MAP)
APC
Familial Adenomatous Polyposis (FAP), AFAP
MET
Hereditary papillary renal carcinoma
PRKAR1A
Carney Syndrome
SMARCB1
Schwannomatosis
Common APC AJ mutation
I1307K
TSC1/2
Tuberous Sclerosis Complex
Contiguous gene deletion of TSC1 and PKD1
TSC with ADPKD
PTEN hamartoma syndromes
Cowden, Bannayan-Riley-Ruvacalba, Proteus and Proteus-like syndrome
PTCH1
Nevoid-Basal Cell Carcinoma/Gorlin syndrome
NF2
Neurofibromatosis Type 2
PC, ERCC2, and POLH
Xeroderma Pigmentosum (XP)
ATM
Ataxia Telangiectasia
RB1
Retinoblastoma
FWT1/FWT2
Wilms tumor
BLM
Bloom syndrome
NBN
Nijmegen breakage syndrome
SPRED1
Legius syndrome