In renal cell cancer gene involved in mutation
(A) (VHL) (953-Robbins pathologic Basis of disease) (681- Harsh mohan 7th)* VHL, MET geneRenal cell carcinoma* WTI gene (1 lpl3)Wllm's tumour* NFI and NF2 geneNeurofibromatosis* BRC1 and BRCA 2 geneBreast cancers* BRCA 1i. BRCA-1 is located on chromosome 17q21ii. BECA -2 is located on chromosome 13q 12Breast cancer (85%) and ovarion cancer 40%)* P53 gene (TP53)(pretector of the genome)Carcinoma of the lung, head and neck, colon and breastMutated p 53 is also seen in the sequential development stages of cancer from hyperplasia to carcinoma in situ and into invasive carcinomaThe normal p53 gene (wild type) functions as a tumor suppressor gene * and functions as a critical gatekeeper against the development of cancer (Molecular policeman/Guardian of the genome)RB- geneRetinoblastoma, osteosarcoman MYC- HSRNeuroblastomaOver expression of BCL-2 proteinsFollicular LymphomaBCR-ABL hybrid geneCML and some ALL* The most common gene defect in idiopathic steroid resistant nephritic syndrome is NPHS1, NPUS 2* Finish of nephritic syndrome is caused by defect in Nephrin proteinTUMOR MARKERSEpithelial cell carcinomaCytokeratinLymphoid cell carcinomaCD45MelanomaSI00, HMB45Mesenchymal markersVimantineNeuroendocrine markersChromagranin, Neuron specific enolaseGastro intestinal stromal tumors (GIST)CDl 17Granulosa cell tumorInhibinEwing's sarcomaCD. 99* c ANCA is typical of wegner's granulomatosis * *** p ANCA is found in most cases of Microscopic polyangitis and churg- straus syndrome**
VHL
TP53
NF1
BRCA-1
Kidney