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Molecular Genetics > DGIs > Flashcards

DGIs Flashcards

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Biology 101 flashcards
1
Q

CYP2c19

A

Clopidogrel/Plavix

Sertraline

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2
Q

CYP3A5

A

Tacrolimus

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3
Q

CYP2C9/VKORC1/CYP4F2

A

Warfarin

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4
Q

TMPT

A

Thiopurine drugs

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5
Q

SLCO1B1

A

Statins

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6
Q

CYP2D6

A

Codeine, tramadol, opioids, Zoltan, Paxil

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7
Q

Pilocytic Astrocytoma

A

BRAF::KIAA1549 fusion

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8
Q

Oligodendroglioma

A

1p- / 19q- co-deletion

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9
Q

Astrocytoma

A

8q+, 10p+, 11p-, gain of 7, loss of 10

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10
Q

Glioblastoma

A

+7, EGFR amp, homozygous loss of CDKN2A, -10

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11
Q

Medulloblastoma

A

Most common malignant brain tumor in kids
4 groups: WNT, SHH, Group 3 and 4
Common abnormalities: iso17q, MYCN amp, TP53 mutations, TERT mutations, MYC amp

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12
Q

Optic pathway tumor, malignant peripheral nerve sheath tumor, JMML

A

NF1

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13
Q

Medullary thyroid cancer

A

RET

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14
Q

Clear cell meningioma

A

SMARCE1

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15
Q

Acoustic or vestibular schwannomas

A

NF2

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16
Q

Pulmonary pleuroblastoma, CNS sarcoma

A

DICER1

17
Q

DLBCL

A

BCL6, TP53, CDKN2A, MYC, BCL2

18
Q

Melanoma, pancreatic cancer

A

CDKN2A

19
Q

Breast, prostate, and endometrial cancer

A

PTEN

20
Q

Liposarcoma

A

Supernumerary ring chromosomes, giant marker chromes, double minutes
Assoc w/amp of MDM2 and CDK4

21
Q

Steps of Khoeler illumination

A
  1. Close field diaphragm.
  2. Center field diaphragm.
  3. Adjust condenser to focus field diaphragm.
  4. Open field diaphragm just beyond the field of view.
22
Q

MALT lymphoma

A

t(11;18)

23
Q

Burkitt’s

A

t(8;14), t(8;22), or t(2;8)

24
Q

ALL w/KMT2A involvement

A

Poor prognosis

25
Q

Anaplastic large cell lymphoma

A

t(2;5) resulting in ALK rearrangement

26
Q

Mantle cell

A

t(11;14)

27
Q

Conventional clear cell RCC

A

deletions of 3p21 (VHL)

28
Q

Papillary RCC

A

Combination of tri and tetrasomy of chromes 7, 12, 16, 17, and 20

29
Q

Neuroectoderal tumor

A

AKA Ewings sarcoma t(11;22)

30
Q

Aveolar rhabdomyosarcoma

A

t(2;13)(q36;q14) or t(1;13)(p36;q14).
The FOXO1 gene on 13q14 rearranges with the PAX3 gene on 2q35 and
the PAX7 gene on 1p36 and results in formation of fusion gene products.

31
Q

Chromophobe-type RCC

A

modal chromosome number of 38-39. Monosomy of chromosomes 1, 2, 6, 10, 13, 17, and 21 are most frequent.

32
Q

Incidence of chromosome abnormalities in first trimester miscarriages

A

~60-70%

Molecular Genetics (5 decks)

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