week 1 Flashcards
RAS is a (TS/ P-Onc?) associated with what cancer?
Oncogene responsible for cholangiocarcinoma and pancreatic adenocarcinoma
c-Myc is a (TS/ P-Onc?) associated with what cancers?n
Oncogene responsible for Burkitt Lymphoma
EGFR a (TS/ P-Onc?) associated with what cancers
Oncogene associated with Adenocarcinoma of the lung
HER2 is a (TS/ P-Onc?) associated with what cancers
Oncogene associated with breast cancer
ABL is a (TS/ P-Onc?) associated with what cancers
oncogene associated with CML
BRAF (RAS signal transduction) is a (TS/ P-Onc?) associated with what cancers?
oncogene associated with melanoma and hairy cell leukemia
BRCA1/2 is a (TS/ P-Onc?) associated with what cancers
Ts; Ovarian and breast
APC/ Beta-Catenin/ WNT pathway is a (TS/P-onc?) associated with what cancers
Ts; Colon, gastric, pancreatic; Familial Adematous polyposis
TP53 is a (TS/ P-Onc?) associated with what cancer?
Ts; all Cancer; Li-fraumeni Syndrome
Rb is a is a (TS/ P-Onc?) associated with what cancer?
Ts; Retinoblastoma and osteosarcoma
BRCA1/2 Defects are associated with what kind of DNA Repair mechanism?
Ts; Homologous DNA Repair
WT-1 is a (TS/ P-Onc?) associated with what cancer?
ts: Wilms Tumor
VHL is a (TS/ P-Onc?) associated with what cancer?
ts; Renal Cell carcinoma; Von Hippel Lindau
Lysosomal storage disease: Cherry red spot on macular, hepatosplenomegaly, neurological regression
Niemann Pick Disease
Niemann Pick disease is an accumulation of what? Due to what deficiency?
Accumulation of Sphingomyelin due to deficient sphingomyelinase
Lysosomal storage disease: neuropathic pain, germ pathology like angiokeratoma and telangiectasia)
Fabry Disease
Fabry’s disease is an accumulation of what? Due to what deficiency?
Accumulation of Ceramide Trihexodase/ Globotriascylceramide due to Alpha-galactosidase A deficiency
Lysosomal storage disease: neurological regression, cherry red spot
Tay Sachs Disease
Tay Sach’s is an accumulation of what? Due to what deficiency?
Accumulation of GM2 due to deficient Hexosaminidase