Hereditary Cancer Syndrome - Genes Flashcards

(49 cards)

1
Q

p53

A

Li Fraumeni syndrome

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2
Q

MEN1

A

Multiple endocrine neoplasia type 1 (MEN1)

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3
Q

CDH1

A

Hereditary diffuse gastric cancer (HDGC)

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4
Q

BRCA1/BRCA2

A

Hereditary breast and ovarian cancer syndrome (HBOC)

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5
Q

FH

A

Hereditary leiomyotosis renal cell carcinoma (HLRCC)

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6
Q

MLH1, MSH2, MSH6, PMS2, EPCAM

A

Lynch syndrome (HNPCC)

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7
Q

RET

A

Multiple endocrine neoplasia type 2 (MEN2A and MEN2B); Familial medullary thyroid carcinoma (FMTC)

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8
Q

PTEN

A

Cowden syndrome

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9
Q

STK11/LKB1

A

Peutz-Jegher syndrome

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10
Q

VHL

A

Von Hippel Lindau disease

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11
Q

NF1

A

Neurofibromatosis type 1

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12
Q

SDHD

A

PGL1 (familial paraganglioma type 1)

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13
Q

SDHAF2

A

PGL2 (familial paraganglioma type 2)

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14
Q

SDHC

A

PGL3 (familial paraganglioma type 3)

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15
Q

SDHB

A

PGL4 (familial paraganglioma type 4)

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16
Q

SDHA

A

PLG5 (familial paraganglioma type 5)

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17
Q

TMEM127/MAX

A

Familial pheochromocytoma (Familial PC)

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18
Q

FLCN

A

Birt Hogg Dube (BHD)

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19
Q

Moderate penetrance breast cancer genes

A

CHEK2, PALB2, ATM

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20
Q

Gene(s) to consider for: Adrenocortical carcinoma

21
Q

Gene(s) to consider for: Carcinoid tumors

22
Q

Gene(s) to consider for: Diffuse gastric cancer

23
Q

Gene(s) to consider for: Fallopian tube and primary peritoneal cancer

24
Q

Gene(s) to consider for: Leiomyosarcoma

A

FH, Lynch genes

25
Gene(s) to consider for: Medullary thyroid carcinoma (MTC)
RET (MEN2A/B, FMTC)
26
Gene(s) to consider for: Paraganglioma/pheochromocytoma (PGL/PC)
RET (MEN2), VHL, NF1, SDHx (hereditary PGL/PC), TMEM127, MAX (familial PC)
27
Gene(s) to consider for: Renal cell carcinoma - chromophobe
FLCN (Birt Hogg Dube)
28
Gene(s) to consider for: Sebaceous Carcinomas
Lynch genes
29
Gene(s) to consider for: Sex cord tumors with annular tubules
STK11 (PJS)
30
BMPR1A/SMAD4
Juvenile Polyposis syndrome
31
CDKN2A (p16)
Familial Atypical Multiple Mole Melanoma (FAMMM)
32
MUTYH
MUTYH-Associated Polyposis (MAP)
33
APC
Familial Adenomatous Polyposis (FAP), AFAP
34
MET
Hereditary papillary renal carcinoma
35
PRKAR1A
Carney Syndrome
36
SMARCB1
Schwannomatosis
37
Common APC AJ mutation
I1307K
38
TSC1/2
Tuberous Sclerosis Complex
39
Contiguous gene deletion of TSC1 and PKD1
TSC with ADPKD
40
PTEN hamartoma syndromes
Cowden, Bannayan-Riley-Ruvacalba, Proteus and Proteus-like syndrome
41
PTCH1
Nevoid-Basal Cell Carcinoma/Gorlin syndrome
42
NF2
Neurofibromatosis Type 2
43
PC, ERCC2, and POLH
Xeroderma Pigmentosum (XP)
44
ATM
Ataxia Telangiectasia
45
RB1
Retinoblastoma
46
FWT1/FWT2
Wilms tumor
47
BLM
Bloom syndrome
48
NBN
Nijmegen breakage syndrome
49
SPRED1
Legius syndrome