PubMed · 2024518
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R S Sparkes. 1991. Tumor suppressor genes.. https://pubmed.ncbi.nlm.nih.gov/2024518/
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OBJECTIVE: To probe the mutations of RB gene in laryngeal carcinoma, and the relation between it and the clinical phase. METHOD: The mutations were detected by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism). RESULT: In laryngeal carcinoma, the mutations were identified in 14(15.5%) of 90 samples, of which 2 were large deletion, 12 were abnormal in electrophoresis of SSCP. The mutations of I-II stage tumor were 5(13.9%), of III-IV were 9(16.7%), there wasn't a significant difference between them. CONCLUSION: RB gene mutation takes part in the development of laryngeal carcinoma. But there wasn't relation between RB gene mutation and the course of laryngeal carcinoma.
Retinoblastoma is a malignant tumor of the retina that occurs primarily in young children as a result of mutations in the retinoblastoma gene (RB), the first tumor suppressor gene to be identified. In about 35% to 40% of patients with retinoblastoma, an RB gene mutation is present in the germline, resulting in hereditary transmission of the disease. Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity. However, some families display an inheritance pattern characterized by reduced penetrance and expressivity. Recent advances in our understanding of the structure and function of the retinoblastoma protein (pRB) now provide new insights into the molecular basis of this low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma mutations either cause a reduction in the amount of normal pRB that is produced (class 1 mutations) or result in a partially functional mutant pRB (class 2 mutations).