Cancer Flashcards
1
Q
slight risk
A
florid, sclerosis adenossis, radial scar, pappiloma
2
Q
moderate risk
A
atypical ductalm lobular hypoplasia
3
Q
Gail uses
A
age,fecund, period,#FDR,BrBx
4
Q
Gail misses
A
pat hx, 2’ relatives, otehr ca
5
Q
Claus uses
A
BrCa risk
6
Q
Claus misses
A
Fhx beyond 2 all allother factors
7
Q
BRCA1/2 mutations models
A
BRCApro, myriad, PENN2 Bodicea
8
Q
PJS cancers
A
Breast panc colon gastric harmar polyps
9
Q
panc brca 1
A
2-3
10
Q
brca 1male br
A
1-5
11
Q
brca1 prostate
A
average risk
12
Q
panc brca 2 risk
A
3-5
13
Q
male br brca2
A
10%
14
Q
malee prostate brca 2
A
20%
15
Q
Fanc anemia risk in what brcas
A
BRCA2 PALB2 BRIP1 RAD51C
16
Q
LFS criteria
A
proband w/ multiple primary under 46 cept 2xbr ca
17
Q
LFS criteria + Fhx
A
LFS tumor beofre 46 plus FDR/SDR can under 56 cept br ca
18
Q
Cowden Sx
A
macro, trichelloma,pappilomatous,thy,colon,harmar polyps
19
Q
moderate pen genes
A
CHEK ATM BRIP - br
PALB2-br + panc
20
Q
gardener syn
A
FAP w/desmoid osteom +teeth
21
Q
AKJ var for FAP
A
L1037L AKJ variant adds FDR w/ ca risk not FAP
22
Q
MYH assoc polyposis risk
A
70%col, duedenal ov bladderskin
23
Q
lynch risks
A
R prox col 70, endomet 50, stomach 10, ov 9, panc, uterine 10
24
Q
pathology for lynch
A
R side signet rin, mucious, tumor inf lymph
25
PJS cancers
small bowerl, stomach breast uterine sex cord panc lung
26
juvenille polyposis genes
BMPR1a SMAD4
27
juvenillepolyposis other ca
col ca + gastric
28
gastric criteria
2 FDR/SDR w/ diffuse gastric ca under 50
29
VHL sx
eye brain spine hemangiomas, endolymph sac tumors, panc cysts phep, renal cysts
30
TSC2 ARPKD location
16p13.3
31
MEN2A
cutaneous lich amyloidosis
32
MEN2B sx
more aggressive GI ganglioneuroma, pheo, marfinoid, skeletal
33
Carney complex Sx
gastric leiomyosarcoma, cardiac myxoma, sertolli cell, adrenal adenoma, chondroma
34
Birthogg dube gene sx
FLCN, pneumothorax, RRC choromophone oncocytic
35
TSC sx
hypomelanotic macules, cortical tubers, SEGA, brain nodules, angiomyolipoma, heart rhabdo, lyphmandiomyomatosis (muscle into lungs)
36
TSC major criteria:
macules, angiofibroma,, shagreen, retinal harmar, cortical dysplasia, SEGA, rhabdomyoma, LAM, andiomyolipoma
37
TSC risks
50% ID seziures
38
TSC continguous gene
TSC2 PKD1
39
PTEN pathoneumonic
pappilomatous papules, trichelloma, acral keratosis
40
PTEN major criteria
brca, thyroid, macrocephaly, endometrial
41
PTEN mino
thyroidlesions, MR, GI harmar, lipomas, fibromas, RCC
42
CDKN2A risks
melanoma, panc, neurostromal
43
NF1 criteria
6+CAL, 2+ neurofibroma/ inguinal freckling, optic glioma, 2+ lisch, 1 FDR, osseuous lesions
44
NF1 features beyond dxcrit
malig peripheral nerve sheathtumor, HTN dt pheo
45
NF2 genes
Merlin
46
NF2 dx crit
b/l vestibular schwannoma, u/l schwannoma plus 2: mengioma glioma, neurofrimoa schwannoma lenticular opacities)cataracts)
47
Gorlin sx major(2 major +1minor)
nevoid basal cell, calc of falx jaw keratosis, palplant pits
48
minor crit gorlin
medullomblastoma, macroceph, CLCP, rib, polydact, ovarian,cardiac fibroma, ocular
49
ATM dxby
immunoblot more senstive than genetic
50
2nd primary w/ BRCA1/2
40% br, 10% ov
51
absence of Ov Ca or BRCA mut
no OOphrectomy
52
BRCA pro
ca risk: age, can risk ancestry, 1-3 unaff relatives, male br, FDR, BRCA positove, mat pat hx`
53
lynch ca
gastric ov bowl unirary cns biliary sebacous
54
if IHC reveals more than 2 consider repeat IHC if persist
testing MSh2/MSH6 if pair is missing plus one other...tst MLH and PMS2 if MLH1 PMS2 pair missing plus one other
55
ca geneti test offered if
phx,fhx,test interp,benefit>risk,voluntary, consent
56
BEthesda criteria
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
test for lynch when
bethesda met, endometrial before 50, LS FHx, >5% risk of LS based on MMRPro, PREMM, MMR
58
Surveillance w/ LS
colonscopy @25, BSO, urothelial ,gastric EGD, CNS, no panc nobR
59
IHC sporadic
15% for MLH1 hypermethy
60
amsterdam II
3 relatives w/ LS, 1 FDR of other two, 2 generations, 1 under 50
61
PMS2 risks
CRC 20%, endometri 15%, others reduced 6% total
62
MLH1 MSH2 risks
CRC 80, endo 60, ovary 25, GI urinary small bowle panc all slight
63
MSH6
CRC 20, end 26, ov 11, urinary stomach - 1% others not reported
64
APC criteria
>adenomas, FHx, desmoid hepatoblastoma, pappilary ca
65
MUTYH criteria
Fhx, 20+ adenomas
66
FAP Sx
100+ polups, CHRPE, osteoma,+teeth, desmoids, duodenal, gastric, medullo/hepato blastoma
67
PJS Dx criteria
2 PJ harmars, pigment, Fhx
68
FAP surveillance
colectomg, endoscopy, thyroid, CNS, intraabdomnal palpaltion + MRI
69
PJS risks
Br, CRC , gastric , small bowel, panc , ov , cervix 10, uterus, lung GC PO CLUB
70
juvenille polyposis dx
3-5 juv polyps, or multiple polyps in GI tract
71
Juvenille polyposis risk for
HHT SMAD4 BMPR1A
72
JuvPS risk
colon, stomach, small int panc
73
serrated polyposisdxcrit
5+serrated or any serrated w/ fhx in FDR, or 20+ serrated
74
BrCA further eval if
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
Further eval for Brca w/ Fhx or personal history of 3+
panc prostate sarcoma acc brain ndometrial thyroid kidney derm macrocep gi harmar diffuse gastric
76
HBOC criteria
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
HBOC phx single criteria
PHx of ovarian or male breast
78
HBOC phx prostate plus
1 relative w/ br under 50 ov panc prostate
79
HBOC crieria Phx panc plus
1 relative w/ br panc or ov uner 50
80
HBOC criteria pnac plus
AKJ hx
81
HBOC FHx onlycriteria
FDR/SDR meeting any HBOC criteria or tDR w/br/ov and 2+ close relatives
82
BRCA1/2 risk for fanc?
BRCA2
83
Li fraumeni ca
sarcoma osteosar, brain br acc leuk lung
84
LFS compret criter
LFS before 46 AND s/fdr w/ lfsbefore 56 OR multiple tumors before 46 or br ca before 35
85
cowden major criteria
br,endome,follicular thy, GI harmar, ganglionueoroma,macroceph,pigment, trichell,palmkerato,papillomaous
86
cowden minor
autism,CRC,lipoma,esophogeal acanthoses ID/DD, pappilary thy, renal
87
when to test for cowden
2+ major(one is macro)3 major, 1maj 3 mminor or 4 minor
88
Intervention for MRI mod pen
ATM CHEK2 PALB2
89
intervention insuff for MRI
BARD1 BRIP1
