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Unit 1: Neoplasia > Cancer Genes > Flashcards

Cancer Genes Flashcards

1
Q

c-ret point mutation (2)

A

MEN (multiple endocrine neoplasm) type 2: thyroid and adrenals

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2
Q

bcr-abl t(9,22) translocation

A

CML

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3
Q

c-met point mutation

A

papillary renal cancer

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4
Q

c-myc t(8,14) translocation

A

Burkitt lymphoma

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5
Q

c-sis overexpression

A

astrocytoma

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6
Q

HST GOF

A

Kaposi sarcoma

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7
Q

erbb2 amplification (3)

A

breast, ovarian, and lung cancers

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8
Q

c-tel GOF

A

myelomonocytic leukemia

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9
Q

n-myc amplification

A

neuroblastoma

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10
Q

l-myc GOF

A

small cell lung cancer

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11
Q

Ki-ras point mutation (3)

A

colon, pancreas, and lung cancers

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12
Q

c-kit GOF

A

GISTs, GI stromal tumors

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13
Q

Rb LOF (2)

A

retinoblastoma, osteosarcoma

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14
Q

BRCA 1 and 2 LOF, impaired DNA double strand break repair (2)

A

breast and ovarian cancer

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15
Q

p16 / CDKN2 deletion or methylation

A

Familial melanoma

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16
Q

p53 LOF (4)

A

Li-Fraumeni: multiple cancers including breast, soft tissue, leukemia, brain

17
Q

WT1 LOF

A

Wilm’s tumor, childhood kidney cancer

18
Q

NF1 deletion

A

Neurofibromatosis type 1: CNS glioma

19
Q

APC inactivation

A

polyps and colon cancer

20
Q

VHL GOF

A

Von Hippel-Lindau Syndrome: kidney and others

21
Q

FHIT GOF

A

Fragile HIstidine Triad: multiple tumors

22
Q

PTEN LOF (3)

A

Cowden / Multiple Hamartoma Syndrome: breast, thyroid, colon, etc.

23
Q

BLM inactivation

A

Bloom Syndrome: many cancer sites, sunlight sensitivity

24
Q

MEN1

A

MEN (multiple endocrine neoplasia) type 1: pancreas

25
Q

NF2 LOF

A

Neurofibromatosis type 2: Schwannomas

26
Q

hMSH2 loss of DNA mismatch repair

A

HNPCC / Lynch Syndrome: colon, melanoma, endometrium

27
Q

TSC1

A

Tuberous sclerosis: kidney

28
Q

bcl-2 t(14,18) translocation

A

Follicular lymphoma

29
Q

ATM (2)

A

Ataxia-telangiectasia: lymphoma and leukemia

30
Q

XP group, defect in nucleotide excision repair (2)

A

Xenoderma pigmentosum: squamous cell carcinoma and melanoma

31
Q

EGFR / HER1 amplification (3)

A

lung cancer, breast cancer, gliobastoma

32
Q

PRAD1 / Cyclin D1 (CCND1) amplification (3)

A

breast cancer, esophageal cancer, lymphoma

33
Q

Myb amplification

A

leukemia

34
Q

MLH1

A

Lynch Syndrome: colon

35
Q

bcl-1 t(11,14) translocation

A

Mantle cell lymphoma

Unit 1: Neoplasia (4 decks)

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