Disorder and Diseases Flashcards
mutations in oncogenes and tumor supressor genes
Cancer
mutation linked in breast(cancer)
BRCA1/2 genes
mutations in lung(cancer)
EGFR and KRAS Genes
mutation that involves translocation affecting genes
Leukemia
Treatment that targets rapid dividing cells(cancer cells)
Chemotherapy
Inherited mutations in the TP53 gene, leading to a high risk of cancer at an early age
Li-Fraumeni Syndrome
Mutation in RB1 gene, white reflection in the pupil(leukocoria), vision loss, eye redness. Can be treated with chemo, radiation, and enucleation
Retinoblastoma
caused by defect in nucleotide excision repair(NER), leading to inability to repair UV-induced DNA damage. Extreme sensitivity to UV light, high risk of skin cancer. Preventions: avoid sunlight, sunscreen, regular dermatology.
Xeroderma Pigmentosum(XP)
Mutation in ATM gene, results in lack of muscle coordination, small; dilated blood vessels), increased risk of leukemia and lyphoma. Treatments are physical therapy, immune system support, screening for early cancer detection
Ataxia-Telangiectasia(A-T)
Refers to any irregularity or dysfunction in the cell cycle
Disorder
Cell cycle malfunction (specific condition caused by dysfunction)
Disease