Genetics Flashcards

1
Q

PLAG1

A

Pleomorphic adenoma (benign parotid gland tumor)

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2
Q

MECT1, MAML2 fusion gene

  • balanced translocation of (11;19)(q21;p13)
A

Mucoepidermoid carcinoma (malignant salivary gland tumor)

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3
Q

Heterozygous LOF mutation in receptor tyrosine kinase (RET)

A

Hirschsprung disease

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4
Q

Mutation of p53, downregulation of CDKN2A (p16/INK4a) in early stages
- late stage: amplification of EGFR, ERBB2, MET, cyclin D1, cyclin E

A

Esophageal adenocarcinoma

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5
Q

LOF mutations in p53, E-cadherin, NOTCH1

  • amplification of SOX2
  • overexpression of cyclin D1
A

Squamous cell carcinoma of esophagus

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6
Q

LOF mutation in tumor suppressor CDH1, which encodes E-cadherin

A

Diffuse gastric adenocarcinoma

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7
Q

Mutations that lead to increased signaling via the Wnt pathway:

  • LOF mutation in APC (adenomatous polyposis coli)
  • LOF mutation in TGFb signaling, BAX, and CDKN2A
A

Sporadic intestinal-type gastric carcinoma

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8
Q

T(11;18)(q21;q21)

Less common: t(1;14)(p22;q32) and t(14;18)(q32;q21)

A

Activate NFkb -> promoting B cell growth -> MALToma

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9
Q
  • GOF mutation in receptor tyrosine kinase KIT or over-expression of PDGFRA

OR mutations in genes encoding mitochondrial succinate DH (SDHA, SDHB, SDHC, SDHD)

A

GI Stromal Tumor (GIST)

NOTE: KIT or PDGFRA mutations respond to tyrosine kinase inhibitor imatinib, tumors without these mutations do not

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10
Q

HLA-DQ2, HLA-DQ8 alleles

A

Celiac disease

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