Robbins Chp 7 - Neoplasia Flashcards
APC
Tumor suppressor gene
Fxn - inhibitor of WNT signaling
Familial syndrome - familial colonic polyps & carcinomas
Cancers - carcinomas of stomach, colon, pancreas, melanoma
NF1
Tumor suppressor gene
Fxn - inhibitor of RAS/MAPK signaling
Familial syndrome - neurofibromatosis type I (neurofibromas and peripheral nerve sheath tumors)
Cancers - neuroblastoma, juvenile myeloid leukemia
NF-2
Tumor suppressor gene
Protein - Merlin
Fxn - cytoskeletal stability; Hippo pathway signaling
Familial syndromes - neurofibromatosis type 2 (acoustic Schwannoma and meningioma)
Cancer - Schwannoma, meningioma
PTCH
Tumor suppressor gene Protein - Patched Fxn - inhibitor of hedgehog signaling Familial syndrome - Gorlin syndrome Cancer - basal cell carcinoma, medulloblastoma
VHL
Tumor suppressor gene
Fxn - inhibitor of hypoxia-induced transcription factors
Familial syndromes - Von Hippel Lindsay syndrome (cerebellar hamngioblastoma, retinal angiosarcoma, renal cell carcinoma)
Cancer - renal cell carcinoma
CDH1
Tumor suppressor gene
Protein - E-Cadherin
Fxn - cell adhesion, inhibition of cell motility
Familial syndromes - familial gastric cancer
Cancer - gastric carcinoma, lobular breast carcinoma
TP53
Tumors suppressor gene
Fxn - cell cycle arrest and apoptosis in response to DNA damage
Familial syndromes - Li-Fraumeni syndrome (diverse cancers)
Cancers - most human cancers
BRCA1, BRCA2
Tumor suppressor genes
Fxn - repair of double-stranded breaks in DNA
Familial syndromes - familial breast and ovarian carcinoma; carcinomas of male breasts; chronic lymphocytic leukemia (BRCA2)
Cancers - rare
MSH2, MCH1, MSH6
Tumor suppressor genes
Fxn: DNA mismatch repair
Familial syndromes - hereditary nonpolyposis colon carcinoma
Cancer - colonic and endometrial carcinoma
WT1
Tumor suppressor genes
Fxn - transcription factor
Familial syndrome - familial Wilms tumor
Cancer - Wilms tumor, certain leukemias
PDGFB
Growth factor oncogene
Fxn - platelet-derived growth factor
Mech - overexpression, autocrine loop
Tumor - astrocytoma
ERBB2 [HER2/neu]
Growth factor receptor oncogene
Fxn - epidermal growth factor receptor
Mech - amplification
Tumor - subset of breast carcinoma and gastric carcinoma
RET
Neural growth factor receptor oncogene
Mech - point mutation
Tumor - MEN2A, MEN2B and sporadic medullary carcinoma of thyroid
KIT
Stem cell growth factor receptor oncogene
Mech - point mutation
Tumor - Gi stromal tumor
RAS gene family
Special transducer oncogene
Fxn - GTP-binding protein
Mech - point mutation
Tumor - carcinomas, melanoma, and lymphoma
ABL
Special transducer oncogene
Fxn - tyrosine kinase
Mech - t(9;22) with BCR
Tumor - CML and sometimes ALL
C-MYC
Nuclear receptor oncogene
Fxn - transcription actor
Mech - t(8;14) involving IgH
Tumor - Burkitt lymphoma
N-Myc
Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - neuroblastoma
L-Myc
Nuclear receptor oncogene
Fxn - transcription factor
Mech - amplification
Tumor - lung carcinoma (small cell)
CCND1 (cyclin D1)
Cell cycle regulator oncogene
Fxn - cyclin
Mech - t(11;14) involving IgH
Tumor - mantle cell lymphoma
CDK4
Cell cycle regulator oncogene
Fxn - cyclin-dependent kinase
Mech - amplification
Tumor - melanoma
ALK
Gene product - receptor tyrosine kinase
Neoplasm - lung adenocarcinoma
BCL-2
Gene product - anti-apoptotic molecule
Neoplasm - follicular and diffuse B cell lymphoma
BRAF
Gene produce - serine/threonine kinase
Neoplasm - melanoma, non-Hodgkin lymphoma, papillary thyroid carcinoma
KRAS
Gene product - GTPase
Neoplasm - colon cancer, lung cancer, pancreatic cancer
Chronic myelogenous leukemia (CML) - translocation and affected gene?
(9;22) (q34;q11)
ABL 9q34
BCR 22q11