P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
作者：
关键词: Germline mutation 、 Internal medicine 、 Cancer 、 Genetic testing 、 Li–Fraumeni syndrome 、 Germline 、 Breast cancer 、 Genetics 、 Risk factor 、 Penetrance 、 Oncology 、 Biology
摘要: The family history of cancer in children treated for a solid malignant tumour the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine role germline p53 mutations genetic predisposition childhood cancer, were sought individuals with least one relative (first- or second-degree first cousin) affected by any before 46 years age, multiple cancers. Screening mutation was possible 268 index cases among fulfilling selection criteria. Seventeen (6.3%) identified, which 13 inherited and four de novo. Using maximum likelihood methods that incorporate retrospective data correct ascertainment bias, lifetime risk carriers estimated be 73% males nearly 100% females high breast accounting difference. associated such is very no evidence low penetrance found. These are frequently but novo not rare.
nature.com
sci-hub.se 参考文章(29)
T Mitsudomi, M M Nau, C A Felix, M E Horowitz, M Tsokos, D L Brown, S Winter, A M Leahey, E A Strauss, D D'Amico, A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene. ,vol. 8, pp. 1203- 1210 ,(1993)
Junya Toguchida, Toshikazu Yamaguchi, Siri H. Dayton, Roberta L. Beaughamp, Guillermo E. Herrera, Kanji Ishizaki, Takao Yamamuro, Paul A. Meyers, John B. Little, Masao S. Sasaki, Ralph R. Weichselbaum, David W. Yandell, Prevalence and Spectrum of Germline Mutations of the p53 Gene among Patients with Sarcoma The New England Journal of Medicine. ,vol. 326, pp. 1301- 1308 ,(1992) , 10.1056/NEJM199205143262001
Eeles Ra, Stratton Mr, Easton Df, Warren W, Bartek J, Lane Dp, Tait Dm, Blake Pr, Averill D, Knee G, Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings Oncogene. ,vol. 8, pp. 1269- 1276 ,(1993)
Bonaiti-Pellie C, Le Bihan C, A method for estimating cancer risk in p53 mutation carriers. Cancer Detection and Prevention. ,vol. 18, pp. 171- ,(1994)
Weber W, Müller H, Spycher M, Mary Jl, Krummenacher F, Scott Rj, [Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling]. Schweizerische Medizinische Wochenschrift. ,vol. 123, pp. 1287- 1292 ,(1993)
Brown Tf, Malkin D, Sinclair Ae, Douglass Ec, Jolly Kw, Look At, Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer Oncogene. ,vol. 9, pp. 97- 102 ,(1994)
M. Thorncroft, G. Mcgown, D. G. R. Evans, E. L. D. Mitchell, J. M. Varley, P. Morrison, P. Woll, S. Cochrane, A. M. Kelsey, J. Boyle, J. M. Birch, A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. Oncogene. ,vol. 12, pp. 2437- 2442 ,(1996)
M. Dreyfus, S. H. Friend, J. E. Garber, T. Frebourg, J. Fraumeni, N. Barbier, Yu-Xin Yan, F. P. Li, Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. American Journal of Human Genetics. ,vol. 56, pp. 608- 615 ,(1995)
Edward D. Lustbader, Sara Strom, Melissa L. Bondy, Louise C. Strong, Wick R. Williams, Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. American Journal of Human Genetics. ,vol. 51, pp. 344- 356 ,(1992)
M. F. Santibanez-Koref, K. J. Tricker, D. G. R. Evans, J. M. Varley, J. M. Birch, A. M. Kelsey, M. Thorncroft, G. Mcgown, Germ-Line Mutations of TP53 in Li-Fraumeni Families: An Extended Study of 39 Families Cancer Research. ,vol. 57, pp. 3245- 3252 ,(1997)