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PHO > Cancer Predisposition Syndromes > Flashcards

Cancer Predisposition Syndromes Flashcards

1
Q

Gorlin Syndrome

A

PTCH1 and SUFU

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2
Q

Gorlin medullo

A

SUFU

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3
Q

Gorlin keratogenic jaw cysts

A

PTCH1

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4
Q

rhabdoid tumor predisposition type 1

A

SMARCB1

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5
Q

CMMRD CNS tumor

A

hypermutated high grade glioma

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6
Q

Li-Fraumeni gene/chr

A

TP53 and chr17

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7
Q

AR CPS

A

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

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8
Q

CMMRD gene

A

MSH, MLH

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9
Q

Rothmund-Thomson type II

A

RECQL4

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10
Q

PTEN-Hamartoma Syndrome

A

PTEN

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11
Q

MEN1 tumors

A

pancreatic neuroendocrine, pituitary adenomas, parathyroid

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12
Q

MEN2A tumors

A

medullary thyroid, hyperparathyroidism

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13
Q

MEN2B features

A

medullary thyroid, pheo, marfanoid habitus

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14
Q

MEN2A/B gene

A

RET (activating)

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15
Q

MEN4 gene

A

CDKN1B

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16
Q

MEN4 tumors

A

pituitary adenomas, parathyroid tumors, GU tumors

17
Q

Carney Complex gene

A

PRKAR1A

18
Q

Hereditary Pheo/Paraganglioma Syndrome

A

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

19
Q

FAP gene

A

APC

20
Q

Hereditary NBL

A

PHOX2B, ALK (activating), RASopathies

21
Q

PHOX2B associations

A

Hirschprung’s disease, congenital central hypoventilation syndrome

22
Q

Bloom syndrome gene

A

BLM

23
Q

Beckwith-Wiedemann

A

Imprinting defect on ch11p15.5

24
Q

rhabdoid tumor predis type II

A

SMARCA4

25
Q

Noonan Syndrome

A

PTPN11, SOS1, RAF1 and KRAS

26
Q

Ataxia-Telangiectasia

A

ATM

27
Q

Nijmegen Breakage Syndrome

A

NBN

28
Q

Familial plt disorder with associated myeloid malignancy

A

RUNX1 (ASA like plt defect)

29
Q

Thrombocytopenia 5

A

ETV6

30
Q

Thrombocytopenia 2

A

ANKRD26

31
Q

Ataxia-Telangiectasia increased risk for

A

T cell leukemia and DLBCL

PHO (15 decks)

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