genes proteins pathways Flashcards

(16 cards)

1
Q

PIK3CA

A

PI3K (p110α) PI3K/AKT/mTOR signaling> H1047R, E545K — breast, endometrial cancer

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2
Q

TP53

A

p53 Tumor suppressor, DNA repair, apoptosis> Loss-of-function in many cancers

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3
Q

KRAS

A

KRAS MAPK pathway (RAS/RAF/MEK/ERK)> G12D, G12V — colorectal, lung, pancreatic CA

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4
Q

NRAS

A

NRAS MAPK signaling> G12D, Q61R — melanoma

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5
Q

HRAS

A

HRAS MAPK signaling> Bladder, thyroid cancer

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6
Q

BRAF

A

BRAF (V600E) MAPK pathway (downstream of RAS)> V600E in melanoma, colorectal CA

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7
Q

EGFR

A

EGFR Receptor tyrosine kinase (RTK)> Exon 19 del, L858R — lung adenocarcinoma

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8
Q

HER2 (ERBB2)

A

HER2 RTK — breast cancer> Amplification in HER2+ breast CA

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9
Q

ALK

A

ALK fusion protein RTK — mostly in fusions (EML4-ALK)> Targetable in NSCLC

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10
Q

PTEN

A

PTEN Tumor suppressor, antagonizes PI3K> Often deleted or mutated

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11
Q

BRCA1, BRCA2

A

BRCA1/BRCA2 Homologous recombination repair> Germline mutations → breast, ovarian CA risk

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12
Q

CDKN2A

A

p16INK4a, p14ARF Cell cycle inhibitors> Frequently deleted in melanoma, pancreatic CA

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13
Q

MYC

A

c-Myc Transcription factor, proliferation> Overexpressed in many cancers

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14
Q

MET

A

MET (c-Met) RTK involved in cell motility> Exon 14 skipping — lung cancer

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15
Q

APC

A

APC Wnt pathway — tumor suppressor> Mutated in familial adenomatous polyposis

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16
Q

CTNNB1

A

β-catenin Wnt pathway (oncogene)> Stabilizing mutations → colon, liver CA