Cancer Gene Syndromes Flashcards
Lynch syndrome
Genes and cancers
MSH2, MLH1, MSH6, PMS2 Colorectal cancer Endometrial cancer Ovarian cancer (micro satellite instability)
Familial adenomatous polypsis (genes, cancers)
chromosome 5: regulates beta catenin -when APC is mutated, lose control of cell proliferation---> numerous polyps APC colorectal cancer Desmoids and osteomas Brain tumors
Von hipped lindau syndrome (genes, cancers)
chromosome 3 VHL (gene regulates hypoxia inducible factor 1 alpha, when VHL is mutated it can't bind HIF1alpha and -->activated transcription of VEGF and EPO) HARP Hemangioblastomas Angiomatosis Renal cell carcinoma Pheochromocytoma
Li Fraumeni syndrome (genes, cancers)
TP53 Sarcomas Breast cancer Brain tumors Adenocortical carcinoma Leukemia
Multiple endocrine neoplasia 1 (genes, cancers)
MEN1
Pituitary adenomas
Parathyroid adenomas
Pancreatic adenomas
Multiple endocrine neoplasia 2A (genes, cancers)
RET
parathyroid hyperplasia
Medullary thyroid carcinoma
Pheochromocytoma
Describe the human multi resistance gene (MDR1)
Codes for P-glycoprotein, a transmembrane ATP dependent efflux pump protein that has a broad specificity for hydrophobic compounds, allows for resistance in chemo b/c can reduce influx of drug into cytosol and increase efflux out
KRAS is a ______ often activates in tumor cells
Proto-oncogene
-these STIMULATE cell proliferation, over expression/amplification
Rb is a __________. Hereditary _________ is associated with ________
tumor suppressor gene, retinoblastoma, osteosarcoma
-chromosome 13
Tuberous Sclerosis on what chromosomes? HAMARTOMAS
-chr 9 or 16 (TSC1/2) Hamartomas in CNS or skin Angiofibromas Mitral regurgitation Ash-leaf spots Rhabdomyoma (cardiac) Tuberous Sclerosis dOminant (autosomal) Mental retardation Angiomyolipoma (renal) Seizures/ Shagreen patches
Sturge Weber
STURGE Sporadic, port wine Stain Tram track calcificaitons Unilateral Retardation Glaucoma/ GNAQ gene Epilepsy
Peutz Jaegers syndrome
autosomal dominant disease for mutation in serine/threonine kinase on chromosome 19
-mucocutaneous macule and numerous hamartous polyps in GI tract
MEN 2B
pheochromocytoma
medullary thyroid cancer
mucosal neuromas
-marfanoid habitus
