Prevalence and Spectrum of Germline Mutations of the p53 Gene among Patients with Sarcoma

• Published in: The New England journal of medicine Vol. 326; no. 20; pp. 1301 - 1308
• Main Authors: Toguchida, Junya, Yamaguchi, Toshikazu, Dayton, Siri H, Beaughamp, Roberta L, Herrera, Guillermo E, Ishizaki, Kanji, Yamamuro, Takao, Meyers, Paul A, Little, John B, Sasaki, Masao S, Weichselbaum, Ralph R, Yandell, David W
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 14.05.1992
• Subjects: Adolescent; Adult; Age Factors; Amino acids; Base Sequence; Biological and medical sciences; Bone cancer; Bone tumors; Brain cancer; Breast cancer; Cancer; Cell cycle; Child; Codon; Codons; Cross-Sectional Studies; Deoxyribonucleic acid; DNA; Family medical history; Female; Genes; Genes, p53; Genetic testing; Genetics; Heterozygote; Humans; Infant; Japan - epidemiology; Leukocytes; Male; man; Medical sciences; Molecular Sequence Data; Mutation; Neoplastic Syndromes, Hereditary - epidemiology; Neoplastic Syndromes, Hereditary - genetics; Osteosarcoma - genetics; p53 gene; p53 Protein; Patients; Polymorphism, Genetic; Sarcoma; Sarcoma - epidemiology; Sarcoma - genetics; Splice junctions; tumor suppressor genes; Tumors; United States - epidemiology; United States; Japan; Human; Sarcoma; Germ line; Cytogenetics; Mutation; Malignant tumor; Molecular biology; Suppressor gene; Carcinogenesis
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199205143262001

HEREDITARY mutations of tumor-suppressor genes have been correlated with a genetic predisposition to cancer, and several such genes have been linked to distinct familial cancer syndromes. 1 The best-studied example is retinoblastoma; about 40 percent of the cases are due to germline mutations of the retinoblastoma gene (the remaining 60 percent of cases are nonhereditary and are due to somatic mutations). 2 Patients with the hereditary form have a high risk of multifocal retinoblastoma and other tumors, and they may pass the disease to their progeny as an autosomal dominant trait. Three fourths of the hereditary cases of retinoblastoma occur in patients . . .