Genes Flashcards

1
Q

TP53

A

Apoptosis or senescence

Mutated in >50% of all tumors

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2
Q

BCR/ABL

A

Philadelphia chromosome
Constantly activated kinases
>95% of CML patients

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3
Q

MYC/IGH

A

B-cell expansion and cell proliferation

EBV infections

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4
Q

APC

A

Degenerates B-catenin

Mutated in CRC

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5
Q

MLH1

A

MMR
Lynch, CRC
High risk of development at young age

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6
Q

MSH2

A

MMR
Lynch, CRC
High risk of development at young age

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7
Q

MSH6

A

MMR

Lynch, CRC

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8
Q

PMS2

A

Lynch, CRC

Older age of development

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9
Q

NTHL-1

A

Helps in BER

Adenomatous polyposis, CRC

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10
Q

BRAC1

A

HR
Mutations in 3% of all BRC
Mutations in 8% of ovarian cancers

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11
Q

BRAC2

A

HR
Mutations in 2% of all BRC
Mutations in 6% of ovarian cancers

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12
Q

CHEK2

A

TSG

Mutated in BRC

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13
Q

CDKN2A

A

Encodes for p14 & p16 TSG’s
40% of melanomas
p16 mutated –> pancreatic cancer

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14
Q

BRAF

A

Oncogene
Mutated in 8% of all cancers
Accounts for 52% of mutations in melanomas

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15
Q

EGFR

A

PI3K activation

Mutated in lung cancer

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