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  • 1
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    Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms (1990)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1990-12-10
    Description: Familial cancer syndromes have helped to define the role of tumor suppressor genes in the development of cancer. The dominantly inherited Li-Fraumeni syndrome (LFS) is of particular interest because of the diversity of childhood and adult tumors that occur in affected individuals. The rarity and high mortality of LFS precluded formal linkage analysis. The alternative approach was to select the most plausible candidate gene. The tumor suppressor gene, p53, was studied because of previous indications that this gene is inactivated in the sporadic (nonfamilial) forms of most cancers that are associated with LFS. Germ line p53 mutations have been detected in all five LFS families analyzed. These mutations do not produce amounts of mutant p53 protein expected to exert a trans-dominant loss of function effect on wild-type p53 protein. The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Malkin, D -- Li, F P -- Strong, L C -- Fraumeni, J F Jr -- Nelson, C E -- Kim, D H -- Kassel, J -- Gryka, M A -- Bischoff, F Z -- Tainsky, M A -- 34936/PHS HHS/ -- 5-T32-CA09299/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1990 Nov 30;250(4985):1233-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1978757" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Base Sequence ; Breast Neoplasms/*genetics ; Chromosomes, Human, Pair 17 ; Cloning, Molecular ; Codon ; DNA/genetics ; Deoxyribonucleases, Type II Site-Specific ; *Genes, p53 ; Genetic Testing ; Germ Cells ; Humans ; Molecular Sequence Data ; *Mutation ; Neoplastic Syndromes, Hereditary/*genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Repetitive Sequences, Nucleic Acid ; Sarcoma/*genetics ; Tumor Suppressor Protein p53/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
    Electronic Resource
    Electronic Resource
    Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) (1997)
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 401-406 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Endometriosis affects 10–15% of women of reproductive age and is a common cause of infertility and pelvic pain. Although endometriosis is characterized by abnormal growth or turn-over of cells, the genetic changes involved remain unclear. We employed a multi-color fluorescence in situ hybridization (FISH) strategy to determine the incidence of somatic chromosomal numeric alterations in severe/late stage endometriosis. Using alpha-satellite sequence-specific DNA probes for chromosomes 7, 8, 11, 12, 16, 17, and 18, simultaneous two- and three-color FISH were performed to evaluate the frequency of monosomic, disomic, and trisomic cells in normal control and endometriotic tissue specimens. In one of four endometriosis samples studied, a significantly higher frequency of monosomy for chromosome 17 (14.8%, χ2 4 = 53.3, P 〈 0.0001) and 16 (8.8%, χ2 4 = 11.4, P 〈 0.05) was observed. An increased number of cells with chromosome 11 trisomy (14.8%, χ2 4 = 96.2, P 〈 0.0001) were detected in a second case. In a third case, a distinct colony of nuclei with chromosome 16 monosomy (14.1%, χ2 4 = 21.39, P 〈 0.005) was detected. Acquired chromosome-specific aneuploidy may be involved in endometriosis, reflecting clonal expansion of chromosomally abnormal cells. That candidate tumor suppressor genes and oncogenes have been mapped to chromosomes 11, 16, and 17 suggests that chromosomal loss or gain plays a role in the development and/or progression of endometriosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050524
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  • 3
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    Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) (1997)
    Springer
    Details
    Publication Date: 1997-08-04
    Print ISSN: 0340-6717
    Electronic ISSN: 1432-1203
    Topics: Biology , Medicine
    Published by Springer
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