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Cancer Flashcards

1
Q

slight risk

A

florid, sclerosis adenossis, radial scar, pappiloma

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2
Q

moderate risk

A

atypical ductalm lobular hypoplasia

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3
Q

Gail uses

A

age,fecund, period,#FDR,BrBx

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4
Q

Gail misses

A

pat hx, 2’ relatives, otehr ca

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5
Q

Claus uses

A

BrCa risk

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6
Q

Claus misses

A

Fhx beyond 2 all allother factors

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7
Q

BRCA1/2 mutations models

A

BRCApro, myriad, PENN2 Bodicea

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8
Q

PJS cancers

A

Breast panc colon gastric harmar polyps

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9
Q

panc brca 1

A

2-3

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10
Q

brca 1male br

A

1-5

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11
Q

brca1 prostate

A

average risk

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12
Q

panc brca 2 risk

A

3-5

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13
Q

male br brca2

A

10%

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14
Q

malee prostate brca 2

A

20%

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15
Q

Fanc anemia risk in what brcas

A

BRCA2 PALB2 BRIP1 RAD51C

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16
Q

LFS criteria

A

proband w/ multiple primary under 46 cept 2xbr ca

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17
Q

LFS criteria + Fhx

A

LFS tumor beofre 46 plus FDR/SDR can under 56 cept br ca

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18
Q

Cowden Sx

A

macro, trichelloma,pappilomatous,thy,colon,harmar polyps

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19
Q

moderate pen genes

A

CHEK ATM BRIP - br

PALB2-br + panc

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20
Q

gardener syn

A

FAP w/desmoid osteom +teeth

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21
Q

AKJ var for FAP

A

L1037L AKJ variant adds FDR w/ ca risk not FAP

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22
Q

MYH assoc polyposis risk

A

70%col, duedenal ov bladderskin

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23
Q

lynch risks

A

R prox col 70, endomet 50, stomach 10, ov 9, panc, uterine 10

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24
Q

pathology for lynch

A

R side signet rin, mucious, tumor inf lymph

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25
Q

PJS cancers

A

small bowerl, stomach breast uterine sex cord panc lung

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26
Q

juvenille polyposis genes

A

BMPR1a SMAD4

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27
Q

juvenillepolyposis other ca

A

col ca + gastric

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28
Q

gastric criteria

A

2 FDR/SDR w/ diffuse gastric ca under 50

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29
Q

VHL sx

A

eye brain spine hemangiomas, endolymph sac tumors, panc cysts phep, renal cysts

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30
Q

TSC2 ARPKD location

A

16p13.3

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31
Q

MEN2A

A

cutaneous lich amyloidosis

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32
Q

MEN2B sx

A

more aggressive GI ganglioneuroma, pheo, marfinoid, skeletal

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33
Q

Carney complex Sx

A

gastric leiomyosarcoma, cardiac myxoma, sertolli cell, adrenal adenoma, chondroma

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34
Q

Birthogg dube gene sx

A

FLCN, pneumothorax, RRC choromophone oncocytic

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35
Q

TSC sx

A

hypomelanotic macules, cortical tubers, SEGA, brain nodules, angiomyolipoma, heart rhabdo, lyphmandiomyomatosis (muscle into lungs)

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36
Q

TSC major criteria:

A

macules, angiofibroma,, shagreen, retinal harmar, cortical dysplasia, SEGA, rhabdomyoma, LAM, andiomyolipoma

37
Q

TSC risks

A

50% ID seziures

38
Q

TSC continguous gene

39
Q

PTEN pathoneumonic

A

pappilomatous papules, trichelloma, acral keratosis

40
Q

PTEN major criteria

A

brca, thyroid, macrocephaly, endometrial

41
Q

PTEN mino

A

thyroidlesions, MR, GI harmar, lipomas, fibromas, RCC

42
Q

CDKN2A risks

A

melanoma, panc, neurostromal

43
Q

NF1 criteria

A

6+CAL, 2+ neurofibroma/ inguinal freckling, optic glioma, 2+ lisch, 1 FDR, osseuous lesions

44
Q

NF1 features beyond dxcrit

A

malig peripheral nerve sheathtumor, HTN dt pheo

45
Q

NF2 genes

46
Q

NF2 dx crit

A

b/l vestibular schwannoma, u/l schwannoma plus 2: mengioma glioma, neurofrimoa schwannoma lenticular opacities)cataracts)

47
Q

Gorlin sx major(2 major +1minor)

A

nevoid basal cell, calc of falx jaw keratosis, palplant pits

48
Q

minor crit gorlin

A

medullomblastoma, macroceph, CLCP, rib, polydact, ovarian,cardiac fibroma, ocular

49
Q

ATM dxby

A

immunoblot more senstive than genetic

50
Q

2nd primary w/ BRCA1/2

A

40% br, 10% ov

51
Q

absence of Ov Ca or BRCA mut

A

no OOphrectomy

52
Q

BRCA pro

A

ca risk: age, can risk ancestry, 1-3 unaff relatives, male br, FDR, BRCA positove, mat pat hx`

53
Q

lynch ca

A

gastric ov bowl unirary cns biliary sebacous

54
Q

if IHC reveals more than 2 consider repeat IHC if persist

A

testing MSh2/MSH6 if pair is missing plus one other…tst MLH and PMS2 if MLH1 PMS2 pair missing plus one other

55
Q

ca geneti test offered if

A

phx,fhx,test interp,benefit>risk,voluntary, consent

56
Q

BEthesda criteria

A

CRC b4 50, synchronous CRC/LS tumor any age, CRC w/ MSIH under60, CRC dx w/1+FDRw/LS before50, CRC dx in 2+FDR/SDR LS can any age

57
Q

test for lynch when

A

bethesda met, endometrial before 50, LS FHx, >5% risk of LS based on MMRPro, PREMM, MMR

58
Q

Surveillance w/ LS

A

colonscopy @25, BSO, urothelial ,gastric EGD, CNS, no panc nobR

59
Q

IHC sporadic

A

15% for MLH1 hypermethy

60
Q

amsterdam II

A

3 relatives w/ LS, 1 FDR of other two, 2 generations, 1 under 50

61
Q

PMS2 risks

A

CRC 20%, endometri 15%, others reduced 6% total

62
Q

MLH1 MSH2 risks

A

CRC 80, endo 60, ovary 25, GI urinary small bowle panc all slight

63
Q

MSH6

A

CRC 20, end 26, ov 11, urinary stomach - 1% others not reported

64
Q

APC criteria

A

> adenomas, FHx, desmoid hepatoblastoma, pappilary ca

65
Q

MUTYH criteria

A

Fhx, 20+ adenomas

66
Q

FAP Sx

A

100+ polups, CHRPE, osteoma,+teeth, desmoids, duodenal, gastric, medullo/hepato blastoma

67
Q

PJS Dx criteria

A

2 PJ harmars, pigment, Fhx

68
Q

FAP surveillance

A

colectomg, endoscopy, thyroid, CNS, intraabdomnal palpaltion + MRI

69
Q

PJS risks

A

Br, CRC , gastric , small bowel, panc , ov , cervix 10, uterus, lung GC PO CLUB

70
Q

juvenille polyposis dx

A

3-5 juv polyps, or multiple polyps in GI tract

71
Q

Juvenille polyposis risk for

A

HHT SMAD4 BMPR1A

72
Q

JuvPS risk

A

colon, stomach, small int panc

73
Q

serrated polyposisdxcrit

A

5+serrated or any serrated w/ fhx in FDR, or 20+ serrated

74
Q

BrCA further eval if

A

Fhx, beca before 50, trip neg b4 60, brca any age w/ ov can or 2 br and panc at anyage OR 1 reltaive w/ BRCA under 50

75
Q

Further eval for Brca w/ Fhx or personal history of 3+

A

panc prostate sarcoma acc brain ndometrial thyroid kidney derm macrocep gi harmar diffuse gastric

76
Q

HBOC criteria

A

personal hx under 45, OR brca under 50 w/ 1 additional primary, 1-3rd DR w/br ca, panc, prostate, male br or akj

77
Q

HBOC phx single criteria

A

PHx of ovarian or male breast

78
Q

HBOC phx prostate plus

A

1 relative w/ br under 50 ov panc prostate

79
Q

HBOC crieria Phx panc plus

A

1 relative w/ br panc or ov uner 50

80
Q

HBOC criteria pnac plus

81
Q

HBOC FHx onlycriteria

A

FDR/SDR meeting any HBOC criteria or tDR w/br/ov and 2+ close relatives

82
Q

BRCA1/2 risk for fanc?

83
Q

Li fraumeni ca

A

sarcoma osteosar, brain br acc leuk lung

84
Q

LFS compret criter

A

LFS before 46 AND s/fdr w/ lfsbefore 56 OR multiple tumors before 46 or br ca before 35

85
Q

cowden major criteria

A

br,endome,follicular thy, GI harmar, ganglionueoroma,macroceph,pigment, trichell,palmkerato,papillomaous

86
Q

cowden minor

A

autism,CRC,lipoma,esophogeal acanthoses ID/DD, pappilary thy, renal

87
Q

when to test for cowden

A

2+ major(one is macro)3 major, 1maj 3 mminor or 4 minor

88
Q

Intervention for MRI mod pen

A

ATM CHEK2 PALB2

89
Q

intervention insuff for MRI

A

BARD1 BRIP1

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