oncogenes and tumor supressor Flashcards
ALK
Oncogene
Receptor Tyrosine Kinase
associated with: lung adenocarcinoma
BCR-ABL
Oncogene
Non receptor tyrosine kinase
9:22 with BCR
associated with:CML, ALL
BCL-2
Oncogene
Antiapoptotic molecule:
Follicular and Diffuse large B cell Lymphomas
BRAF
Oncogene
Serine/threonine kinase
Melanoma, non Hodgkin lymphoma, papillary thyroid ca, hair cell leukemia
C-kit
Oncogene stem cell growth factor receptor point mutation Cytokine receptor gastrointestinal stromal tumor
C-MYC
Oncogene
Transcription factor
8-14 Burkitt lymphoma involve IgH
HER2/neu (c-erbB2)
Oncogene
Epidermal growth factor receptor - amplification
receptor tyrosine kinase
Breast and gastric carcinomas
JAK2
Oncogene
Tyrosine Kinase
Chronic myeloproiferative disorders
KRAS
Oncogene
GTPas- G protein intracellular
point mutation
Colon cancer, lunch danger, pancreatic cancer
MYCL1
Oncogene
transcription factor
lung cancer
N-myc (MYCN)
- Oncogene
- Transcription factor- capable of binding DNA, and can be dented by DNA probes
- amplification
- Neuroblastoma
RET
Oncogene Neuroal growth factor receptor Point mutation Receptor Tyrosine kinase MEN 2a 2b, papillary thyroid cancer
Oncogene
Gain of function mutation- converts proto-oncogenes to oncogene to increase cancer risk.
requires one damage to one allele of a proto-oncogene
PDGFB
oncogenes
Platelet derived growth factor
astrocytoma
CCND1 (cyclin D1)
Oncogene
Cyclin
11:14 mantle cell cyclin D1 activation over expression
CKD4
Oncogene
Cyclin dependent kinase
amplification
Melanoma
Tumor suppressor gene
loss of function, increase cancer risk.
Both alleles of a tumor suppressor gene must be lost for expression
P53-regulate progression of the cell cycle from G1-S. P53 upregulates BAX disrupts bcl2 cause cytochrome C to leak out
APC
Tumor Suppressor gene
Negative regulator of B-Catenin/WNT pathway
Colorectal Cancer (association with FAP)
BRCA1/BRCA2
Tumor Suppressor gene
Dna Repair Portein
Breast, Ovarian, and pancreatic cancer
CDKN2A
Tumor Suppressor gene
p16, blick G1 to S phase
Melanoma, Pancreatic cancer
DCC
Tumor Suppressor gene
DCC- Deleted in colon cancer
SMAD4 (DPC4)
Tumor Suppressor gene
DPC deleted in pancreatic cancer
MEN1
Tumor Suppressor gene Chromosome 11
Menin
Pituitary tumors(prolactin or GH0
Pancreatic Endocrine Tumors ( Zollinger , insulinomas, vipomas, glucagonomas
Parathyroid adenomas
can also see angiofibromas, collagenous, meningiomas
NF1
Tumor Suppressor gene Chromosome 17
Neurofibromin is a negative Ras GTPase activating protein
neurofibromatosis Type 1: AD, 100% penetrance
presentation: cafe au last spots, intellectual disability, cutaneous neurofibromas, litchi nodules ( pigmented iris hamartomas, Optic gloms, pheochromocytoma, seizure, and neurologic signs from meningioma, and sphenoid dysplasia
NF2
Tumor Suppressor gene chromosome 22
Merlin (schwannomin) protein
NF2: AD, bilateral vestibular schwannomas, Juvenal cataracts, meningiomas, ependymomas
PTEN
Tumor Suppressor gene
Negative regulator of PI2k/AKT pathway
breast, prostate, endometrial cancer
RB
Tumor Suppressor gene
Inhibits E2F: blocks G1-S phase
Retinoblastoma, osteosarcoma
TP53
Tumor Suppressor gene
P53 activates p21, blocks G1-S phase
Li fraumeni syndrom
SBLA ( sarcoma, breast, leukemia, Adrenal Gland )
TSC1
Tumor Suppressor gene Chromosome 9
Hamartin protein
Tuberous sclerosis:AD, Hamartomas in CNS and skin, Angiofibromas, mitral regurgitation, ashleaf spots, cardiac rhabdomyoma, mental retardation, renal angiomylopoma, Seizure , Shagreen patches
-Increase incidence of subependymal (periventuclar mass) Giant cell astrocytoma and unfurl fibrous
More likely to have autism
TSC2
Tumor Suppressor gene Chromosome 16
Tuberlin protein
Tuberous sclerosis:AD, Hamartomas in CNS and skin, Angiofibromas, mitral regurgitation, ashleaf spots, cardiac rhabdomyoma, mental retardation, renal angiomylopoma, Seizure , Shagreen patches
-Increase incidence of subependymal (periventuclar mass) Giant cell astrocytoma and unfurl fibrous
More likely to have autism
VHL
Tumor Suppressor gene chromosome 3p
Inhibits hypoxia inducible factor 1a
Von Hippel-lindau disease AD :renal cell carcinoma bilateral, hemangioblastoma, angiomatosis, pheochromocytoma
WT1
Tumor Suppressor gene
Transcriptions factor the regulates urogenital development
Wilms tumor ( nephroblastoma ) - contains embryonic glomerular structures. Presents with large palpable, unilateral flank mass and possible HTN
can be a part of :
1. WAGR complex: wilms tumor, aniida , GU malformation, Mental retardation with WT1 deletion
- Densy Drash Syndrom: Wims dumor, diffuse mesangial sclerosis , dysgenesis of gonads ( male pseudohermaphroditism, wt1 mutation
- beckwith-wiedemann Syndrome: films tumor, macroglossia, organomeagly. Mutation of short arm 11