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Med Gen II > Cancers > Flashcards

Cancers Flashcards

1
Q

Birt-Hogg-Dube gene

A

FLCN

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1
Q

Birt-Hogg-Dube cancers

A

Skin lesions
Renal tumors
Lung cysts

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2
Q

Carney Complex gene

A

PRKAR1A

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3
Q

Carney Complex cancers

A

lentigenes (liver spots)
myxomas of the heart, skin, and breast
nodular adrenocortical disease
Large cell calcifying sertoli cell tumors
melanotic schwannoma

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4
Q

Constitutional mismatch repair deficiency genes (MMRD)

A

MLH1
MSH2
MSH6
PMS2
EPCAM

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5
Q

MMRD inheritance

A

Autosomal recessive

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6
Q

MMRD Cancers

A

Lynch-syndrome associated
Hematologic
Embryonic
NF1 like features (cafe-au-lait macules, skinfold freckling, lisch nodules, neurofibromas, tibial pseudoarthosis

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7
Q

Cowden gene

A

PTEN

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8
Q

Cowden increased cancer risk

A

Breast
Follicular thyroid
Renal cell
Endometrial
Colorectal
Melanoma

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9
Q

Cowden features

A

Macrocephaly
Benign skin findings
Penile hyperpigmentation
Lhermitte-Duclos disease (dysplastic gangliocytoma of cerebellum)

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10
Q

FAP gene

A

APC

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11
Q

FAP features

A

adenomatous colon polyps
Increased lifetime risk of colorectal cancer
>100 adenomatous polyps

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12
Q

Attenuated familial adenomatous polyposis

A

30-100 adenomatous polyps

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13
Q

FAP other cancer risks

A

Duodenal
Pancreatic
Papillary thyroid
Hepatoblastoma
Medulloblastoma

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14
Q

FAP extracolonic manifestations

A

Congenital hypertrophy of the retinal pigmented epithelium
Osteomas
Dental abnormalities
Benign cutaneous lesions
Desmoid tumors

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15
Q

Percent of patients found with APC mutation with 1000 or more adenomas

A

80%

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16
Q

Familial gastrointestinal stromal tumor (GIST) genes

A

KIT
PDGFRA
SDHB
SDHC

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17
Q

KIT gene mutation features

A

GIST
hyperpigmentation
Mast cell tumors
Dysphagia

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18
Q

PDGFRA gene mutation features

A

Large hands

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19
Q

Wild type GISTs defined as

A

no detectable mutations in KIT, PDGFRA, or BRAF

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20
Q

Most common pancreatic cancer mutation gene

A

BRCA2

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21
Q

Syndromes associated with pancreatic cancer

A

Lynch
Peutz-Jeghers
FAP
Hereditary melanoma
HBOC

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22
Q

Other genes associated with pancreatic cncer

A

CDKN2A
PALB2
ATM

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23
Q

Guidelines criteria for prostate cancer

A

Hopkins criteria

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24
Q

HOXB13 gene cancer

A

prostate

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25
Q

HBCO genes

A

BRCA1 and BRCA2

26
Q

HBOC cancers

A

breast
male breast
epithelium ovarian
fallopian tube
peritoneal
pancreatic
prostate
melanoma

27
Q

Likelihood of identifying BRCA1/2 mutation in woman with ovarian cancer

A

13-18%

28
Q

Prevalence of BRCA1 mutations

A

1:300

29
Q

Prevalence of BRCA2 mutations

A

1:800

30
Q

Hereditary diffuse gastric cancer gene

A

CDH1

31
Q

Hereditary leiomyomatosis and renal cell cancer gene

A

FH

32
Q

FH cancers

A

renal
Cutaneous and uterine leiomyomas (smooth muscle tumors)

33
Q

Hereditary melanoma genes

A

CDKN2A/ARF
CDK4

34
Q

Hereditary mixed polyposis syndrome genes

A

BMPR1A
GREM1

35
Q

Hereditary papillary RCC gene

A

MET

36
Q

Hereditary paraganglioma-pheochromocytoma syndrome genes

A

SDHB, SDHD, SDHC, SDHAF2, MAX, and TMEM127

37
Q

Phenochromocytoma

A

adrenal tumor

38
Q

Paraganglioma

A

tumor in the carotid artery

39
Q

Hereditary retinoblastoma gene

A

RB1

40
Q

Age of hereditary retinoblastoma

A

5

41
Q

Juvenile polyposis syndrome genes

A

SMAD4
BMPR1A

42
Q

Extraintestinal features of juvenile polyposis syndrome

A

valvular heart disease
telangiectasia or vascular anomalies
macrocephaly

43
Q

Li-Fraumeni Syndrome gen

A

TP53

44
Q

Li-Fraumeni cancers

A

breast
brain
adrenocortex
non-Ewing sarcoma

45
Q

Lynch Syndrome genes

A

MLH1
MSH2
MSH6
PMS2
EPCAM

46
Q

Lynch syndrome cancers

A

colorectal
endometrial
ovarian
gastric
urothelial
glioblastoma
sebaceous
biliary
small bowel
pancreatic adenocarcinomas

47
Q

Melanoma-astrocytoma syndrome genes

A

CDKN2A and p14ARF

48
Q

Multiple endocrine neoplasia type 1 gene

A

MEN1

49
Q

MEN1 tumors

A

adrenal
parathyroid
pituitary
pancreas
thymic
gastrinoma

50
Q

MEN type II gene

A

RET

51
Q

MEN II cancers

A

medullary thyroid
pheochromcytomas
parathyroid

52
Q

MUTYH associated polyposis inheritance and cancers

A

AR
adenomatous colon polyps
colorectal

53
Q

Nevoid basal cell carcinoma syndrome (NBCCS) gene

A

PTCH

54
Q

NBCCS features

A

jaw keratocysts
basal-cell carcinomas
macrocephaly
frontal bossing
coarse facial features
facial milia (small cysts)
skeletal anomalies

55
Q

Less common features of NBCCS

A

cardiac fibromas
ovarian fibromas
medulloblastoma

56
Q

Peutz-Jeghers syndrome (PJS) gene

A

STK11

57
Q

PJS features

A

mucocutaneous hyperpigmantation (of mouth, lips, nose, eyes, genitalia, or fingers)
Hamartomatous polyps of GI
risk for colorectal, pancreatic, gastric, and small intestine
breast
ovarian sex cord tumors
adenoma malignum of the cervix and testes (sertoli cells)

58
Q

Rhabdoid tumor predisposition syndrome types I and II genes

A

SMARCB1 (type I)
SMARCA4 (type II)

59
Q

rhabdoid tumors

A

rare, aggressive tumors of children

60
Q

Tuberous sclerosis complex (TSC) genes

A

TSC1
TSC2

61
Q

TSC cancers and features

A

Brain
Kidney
Heart
Features:
skin
neuro

62
Q

Von Hippel-Lindau Syndrome gene

A

VHL

63
Q

VHL cancer

A

renal cell carcinoma
hemangioblastoma
pheochromocytoma
endolymphatic sac tumors

Med Gen II (9 decks)

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