Translocations and syndromes

Question 1

APL?

M4, AMML/eos?

CML?

Answer 1

t(15;17); PML/RARA

Inv16; MYH11/CBFB

t(9;22); BCR/ABL

Question 2

Which survive more; diandric trisomy or digynic?

Answer 2

Diandric 85% vs 25%; larger head and normal body size, small planceta

Question 3

Mechanism of Prader Willi?

Mech of Angelman?

Gene for Angelman?

Answer 3

Maternal should be silenced; maled fucked with (deleted, methylated, maternal UPD)

Angel: Mon not imprinted, deleted, paternal UPD

UBE3A

Question 4

Gardner’s Syndrome?

Turcot?

Answer 4

Part of FAP (APC gene): FAP+desmoid, ostemoas, dental abnormalities, epidermoid cysts and fibromas

Turcot: FAP+ CNS (meduloblastoma).

Question 5

Cowden’s is what gene?

Features/inheritence?

Answer 5

PTEN: Hamartomas, risk of thyroid (benign and maligant tumors), breat (85%) and endometrium, trichlemmomas

AD

Question 6

What is Carney Complex?

Gene?

Features?

Answer 6

Skin pigment, Myxomas (cardiac); pigmented adrenocortical dx (cushing); LCSCT; schwannoma

PRKAR1A

Question 7

MUTYH; AD or AR?

Associated with what other gene?

Answer 7

AR; KRAS c.34g>T codon 14

Question 8

PJS gene and features?

Answer 8

Hyperpigmentation, hamartomatous polyps, SCAT, LCST, adenomalignum of cervix

SKT11

Question 9

BRCA1 mutation?

Symptoms?

Answer 9

c.187delAG, c.538insC in Jews; interacts with BARD1 gene

Serous adeno of ovary, prostate, pancreatic, AND BREAT

Question 10

BRCA 2 gene?

Answer 10

BRAC2 and binds to RAD51 in DNA repair

Serous ovary, prostate, pancreatic, and breast

Question 11

Tuberous sclerosis gene?

Symptoms?

Answer 11

Hypomelanotic maculos, cortical tubers, shagreen patches, SEGAs, **angiomyellipomas and renal cysts, cardiac rhabdomyomas

TSC1 and 2**

Question 12

MEN1. symptoms and gene?

Answer 12

Pituitary adenoa (prolactinoma), Parathyroid (hypercalcemia), Pancreatic tumors

AD; MEN1 vs RET (MEN2A/B and Famalial Medullary Carcinoma Thyroid)

Question 13

VHL symptoms?

Gene interacts with?

Answer 13

Hemangioblastoma brain; clear cell renal cell, simple renal/pancreatic cysts, endolymphatic sac tumors

Loss of function, and interacts with HIF1alpha degredation

Question 14

Hereditary diffuse gastic cancer gene/symptoms?

Gorlin Gene and Symptoms?

Answer 14

CDH1; AD; Breast and gastric adenocarcinoma

Gorlin: Jaw keratocysts, Basal cell carcinoma, ectopic calcs (faulx ceribri), fibromas; PTCH gene (affects in SHH)

Question 15

Retinoblastoma?

Gene/symptoms?

Answer 15

RB1 ; AD

Retinoblastomas, pinealblastomas (fatal), osteosarc

Question 16

Li-Fraumeni?

Gene/Symptoms (one key feature)?

Answer 16

TP53; AD

Adrenal cortical carcinoma; Soft tissue sarcoma and osteosarcs

Question 17

MENA2 / gene/ mutation?

Symptoms?

Answer 17

RET gene (Cys 634)

Medullary carcinoma thyroid, pheo, Parathyroid (PTH and Ca increased)

Question 18

MEN2B gene/ mutation/ sypmptoms?

Answer 18

RET; M918T, A883F

Medullary carcinoma thyroid, Pheo, Marfanoid, neuromas

Question 19

What drugs do these genes effect?
TPMT?

CYP2D6?

CYP2C19?

Answer 19

TPMT: 6-mercaptopurinee

CYP2D6: Codeine, Tramadol, Tricyclics; and Tamoxifen

CYP2C19: Polymorphisms affect clopidogrel or PPI

Question 20

What drugs do these genes effect?
VKORC1?
G6PD?

Answer 20

VKORC: Warfarin

G6PD: Rasburicase

Question 21

FLCN mutations vs VHL?

Answer 21

both cause kidney cancer
VHL has vascualr tumors, adrenal tumors and visceral cysts (lung less likely)

FLCH=Britt-Hogg-Dube; AD, skin papules on face, renal tumor and pulmonary cyts/pneumothorax

Question 22

FMR1 (Fragile X) length cutoffs?

Answer 22

Up to 44 repeats normal/stable
45-54: Inconclusive (stable or unstable)
Premutation 55-200 CCG–Can exhibit full expansion in offspring, female carriers with premature ovarian failure
>200 is full expression

Question 23

Huntington’s disease AD/AR?

Triplet repeat?

Size cut offs?

Answer 23

AD

CAG on HTT on 4p

<28 normal, 28-35 premutation, 36-40 reduced penetrance, >40 disease