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NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - March 2002

Imprima English

National Cancer Institute^®
Ultima Vez Modificado: 1 de marzo del 2002

Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts.

Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap.

Individual-specific liability groups in genetic linkage, with applications to kindreds with Li-Fraumeni syndrome.

Table of Contents

1
UI - 11835679
AU - Boyle JM; Spreadborough AR; Greaves MJ; Birch JM; Varley JM; Scott D
TI - Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts.
SO - Radiat Res 2002 Feb;157(2):158-65
AD - CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Christie Hospital NHS Trust, Manchester M20 9BX, United Kingdom.
Knockout mice with only one Trp53 allele (+/- genotype) are highly susceptible to radiation-induced cancers, possibly through numerical chromosome changes. Patients with the Li-Fraumeni syndrome, having heterozygous TP53 germline mutations (+/mut genotype), are also susceptible to spontaneous and radiogenic cancers. We have investigated the susceptibility of six Li-Fraumeni syndrome +/mut and six normal fibroblast strains to induced numerical and unstable structural aberrations at six population doublings after exposure to 3 or 6 Gy gamma rays. Four of the irradiated Li-Fraumeni syndrome strains showed small increases in both aberration types, similar to those seen in the normal strains. In two irradiated Li-Fraumeni syndrome strains, there were high levels of induced structural changes, and one of these showed a modest increase in hyperploidy. We suggest that enhanced sensitivity to delayed radiation-induced chromosome changes in Li-Fraumeni syndrome cells requires other genetic alterations in addition to TP53 heterozygosity, apparently in contrast to the situation in Trp53 heterozygous null mice. If such additional alterations occur in vivo in Li-Fraumeni syndrome patients, they may predispose them to radiogenic cancers, mainly through enhanced structural rather than numerical chromosome changes. Our findings raise questions about the validity of quantitative extrapolation of cytogenetic data from Trp53-defective mice to radiogenic cancer risk in humans.

2
UI - 11826360
AU - Wyatt-Ashmead J; Kleinschmidt-DeMasters B; Mierau GW; Malkin D; Orsini
TI - E; McGavran L; Foreman NK Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap.
SO - Pediatr Dev Pathol 2001 Nov-Dec;4(6):545-9
AD - Pathology Department, The Children's Hospital, 1056 East 19th Avenue B120, Denver, CO 80218, USA.
Five of six poorly differentiated choroid plexus carcinomas identified at our institution contained cells displaying a rhabdoid phenotype. Immunoperoxidase stains showed focal positivity for cytokeratin, epithelial membrane antigen, glial fibrillary acidic protein, S100, and vimentin. The MIB-1 proliferative index ranged from 7.0% to 27.1%. All six tumors were p53 positive. Only the one child with Li-Fraumeni syndrome had a p53 germline mutation. Electron microscopy verified choroid plexus differentiation and the co-existence of rhabdoid cells. Of the five studied, four had deletions of chromosome 22 [three with monosomy 22 and one with del(22)(q12)]. Thus, there was a phenotypic and genotypic overlap between choroid plexus carcinomas and rhabdoid tumors.

3
UI - 11822026
AU - Shete S; Amos CI; Hwang SJ; Strong LC
TI - Individual-specific liability groups in genetic linkage, with applications to kindreds with Li-Fraumeni syndrome.
SO - Am J Hum Genet 2002 Mar;70(3):813-7
AD - Department of Epidemiology, The University of Texas M. D. Anderson Cancer Center, Houston, TX 77030, USA. sshete@mdanderson.org
In this report, we present a simple and powerful way to incorporate individual-specific liability classes into linkage analysis. The proposed method is applicable to both quantitative and qualitative traits. In linkage studies, we may have information about different covariates. Incorporation of these covariates along with the estimates of residual familial effects, age-at-onset effects, and susceptibility in the definition of liability classes can increase the power to detect genetic linkage. In this study, we show how one can form individual-specific liability classes and use these classes in standard linkage-analysis programs, such as the widely used LINKAGE package, to perform more powerful genetic linkage analysis. Our simulation study shows that this approach yields higher LOD scores and more-accurate estimates of the recombination fraction in the families showing linkage. The proposed method is also applied to kindreds collected, at the M. D. Anderson Cancer Center, through probands with childhood soft-tissue sarcoma. Confirmed germ-line mutations in the p53 tumor-suppressor gene have been identified in these families. Application of our method to these families yielded significantly higher LOD scores and more-accurate recombination fractions than did analysis that did not account for individual-specific covariate information.

The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.

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