Genetics Flashcards
PLAG1
Pleomorphic adenoma (benign parotid gland tumor)
MECT1, MAML2 fusion gene
- balanced translocation of (11;19)(q21;p13)
Mucoepidermoid carcinoma (malignant salivary gland tumor)
Heterozygous LOF mutation in receptor tyrosine kinase (RET)
Hirschsprung disease
Mutation of p53, downregulation of CDKN2A (p16/INK4a) in early stages
- late stage: amplification of EGFR, ERBB2, MET, cyclin D1, cyclin E
Esophageal adenocarcinoma
LOF mutations in p53, E-cadherin, NOTCH1
- amplification of SOX2
- overexpression of cyclin D1
Squamous cell carcinoma of esophagus
LOF mutation in tumor suppressor CDH1, which encodes E-cadherin
Diffuse gastric adenocarcinoma
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
Sporadic intestinal-type gastric carcinoma
T(11;18)(q21;q21)
Less common: t(1;14)(p22;q32) and t(14;18)(q32;q21)
Activate NFkb -> promoting B cell growth -> MALToma
- GOF mutation in receptor tyrosine kinase KIT or over-expression of PDGFRA
OR mutations in genes encoding mitochondrial succinate DH (SDHA, SDHB, SDHC, SDHD)
GI Stromal Tumor (GIST)
NOTE: KIT or PDGFRA mutations respond to tyrosine kinase inhibitor imatinib, tumors without these mutations do not
HLA-DQ2, HLA-DQ8 alleles
Celiac disease