Cancer Predisposition Syndromes

Question 1

Gorlin Syndrome

Answer 1

PTCH1 and SUFU

Question 2

Gorlin medullo

Answer 2

SUFU

Question 3

Gorlin keratogenic jaw cysts

Answer 3

PTCH1

Question 4

rhabdoid tumor predisposition type 1

Answer 4

SMARCB1

Question 5

CMMRD CNS tumor

Answer 5

hypermutated high grade glioma

Question 6

Li-Fraumeni gene/chr

Answer 6

TP53 and chr17

Question 7

AR CPS

Answer 7

CMMRD, Rothmund-Thomson, Bloom syndrome, Ataxia-Telangiectasia, Nijmegen Breakage syndrome

Question 8

CMMRD gene

Answer 8

MSH, MLH

Question 9

Rothmund-Thomson type II

Answer 9

RECQL4

Question 10

PTEN-Hamartoma Syndrome

Answer 10

PTEN

Question 11

MEN1 tumors

Answer 11

pancreatic neuroendocrine, pituitary adenomas, parathyroid

Question 12

MEN2A tumors

Answer 12

medullary thyroid, hyperparathyroidism

Question 13

MEN2B features

Answer 13

medullary thyroid, pheo, marfanoid habitus

Question 14

MEN2A/B gene

Answer 14

RET (activating)

Question 15

MEN4 gene

Answer 15

CDKN1B

Question 16

MEN4 tumors

Answer 16

pituitary adenomas, parathyroid tumors, GU tumors

Question 17

Carney Complex gene

Answer 17

PRKAR1A

Question 18

Hereditary Pheo/Paraganglioma Syndrome

Answer 18

SDHA, SDHB, SDHc (SDHB most likely to have mets)

Question 19

FAP gene

Answer 19

APC

Question 20

Hereditary NBL

Answer 20

PHOX2B, ALK (activating), RASopathies

Question 21

PHOX2B associations

Answer 21

Hirschprung’s disease, congenital central hypoventilation syndrome

Question 22

Bloom syndrome gene

Answer 22

BLM

Question 23

Beckwith-Wiedemann

Answer 23

Imprinting defect on ch11p15.5

Question 24

rhabdoid tumor predis type II

Answer 24

SMARCA4

Question 25

Noonan Syndrome

Answer 25

PTPN11, SOS1, RAF1 and KRAS

Question 26

Ataxia-Telangiectasia

Answer 26

ATM

Question 27

Nijmegen Breakage Syndrome

Answer 27

NBN

Question 28

Familial plt disorder with associated myeloid malignancy

Answer 28

RUNX1 (ASA like plt defect)

Question 29

Thrombocytopenia 5

Answer 29

ETV6

Question 30

Thrombocytopenia 2

Answer 30

ANKRD26

Question 31

Ataxia-Telangiectasia increased risk for

Answer 31

T cell leukemia and DLBCL