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Cancer Genetics > Hereditary Cancer Syndrome - Genes > Flashcards

Hereditary Cancer Syndrome - Genes Flashcards

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Biology 101 flashcards
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

A

p53 (LFS)

21
Q

Gene(s) to consider for: Carcinoid tumors

A

MEN1

22
Q

Gene(s) to consider for: Diffuse gastric cancer

A

CDH1

23
Q

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

A

BRCA1/BRCA2

24
Q

Gene(s) to consider for: Leiomyosarcoma

A

FH, Lynch genes

25
Q

Gene(s) to consider for: Medullary thyroid carcinoma (MTC)

A

RET (MEN2A/B, FMTC)

26
Q

Gene(s) to consider for: Paraganglioma/pheochromocytoma (PGL/PC)

A

RET (MEN2), VHL, NF1, SDHx (hereditary PGL/PC), TMEM127, MAX (familial PC)

27
Q

Gene(s) to consider for: Renal cell carcinoma - chromophobe

A

FLCN (Birt Hogg Dube)

28
Q

Gene(s) to consider for: Sebaceous Carcinomas

A

Lynch genes

29
Q

Gene(s) to consider for: Sex cord tumors with annular tubules

A

STK11 (PJS)

30
Q

BMPR1A/SMAD4

A

Juvenile Polyposis syndrome

31
Q

CDKN2A (p16)

A

Familial Atypical Multiple Mole Melanoma (FAMMM)

32
Q

MUTYH

A

MUTYH-Associated Polyposis (MAP)

33
Q

APC

A

Familial Adenomatous Polyposis (FAP), AFAP

34
Q

MET

A

Hereditary papillary renal carcinoma

35
Q

PRKAR1A

A

Carney Syndrome

36
Q

SMARCB1

A

Schwannomatosis

37
Q

Common APC AJ mutation

A

I1307K

38
Q

TSC1/2

A

Tuberous Sclerosis Complex

39
Q

Contiguous gene deletion of TSC1 and PKD1

A

TSC with ADPKD

40
Q

PTEN hamartoma syndromes

A

Cowden, Bannayan-Riley-Ruvacalba, Proteus and Proteus-like syndrome

41
Q

PTCH1

A

Nevoid-Basal Cell Carcinoma/Gorlin syndrome

42
Q

NF2

A

Neurofibromatosis Type 2

43
Q

PC, ERCC2, and POLH

A

Xeroderma Pigmentosum (XP)

44
Q

ATM

A

Ataxia Telangiectasia

45
Q

RB1

A

Retinoblastoma

46
Q

FWT1/FWT2

A

Wilms tumor

47
Q

BLM

A

Bloom syndrome

48
Q

NBN

A

Nijmegen breakage syndrome

49
Q

SPRED1

A

Legius syndrome

Cancer Genetics (2 decks)

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