Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions
Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 ( TP53 ) as a germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple co...
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| Veröffentlicht in: | Molecular diagnosis & therapy 2013-02, Vol.17 (1), p.31-47 |
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| creator | Sorrell, April D. Espenschied, Carin R. Culver, Julie O. Weitzel, Jeffrey N. |
| description | Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (
TP53
) as a germline mutation continues to evolve. The clinical impact of a germline
TP53
mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the
TP53
tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several
TP53
-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report is used to highlight special
TP53
testing dilemmas and unique challenges associated with genetic testing decisions in the current age of rapidly advancing genomic technologies. |
| doi_str_mv | 10.1007/s40291-013-0020-0 |
| format | Article |
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TP53
) as a germline mutation continues to evolve. The clinical impact of a germline
TP53
mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the
TP53
tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several
TP53
-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report is used to highlight special
TP53
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TP53
) as a germline mutation continues to evolve. The clinical impact of a germline
TP53
mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the
TP53
tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several
TP53
-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report is used to highlight special
TP53
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Espenschied, Carin R. ; Culver, Julie O. ; Weitzel, Jeffrey N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-cb49bca641f576c2fac03abf78415196291f136f35159b1b5bf850c53443e4133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adrenal Cortex Neoplasms - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brain Neoplasms - genetics</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - genetics</topic><topic>Cancer Research</topic><topic>Female</topic><topic>Genes</topic><topic>Genes, p53</topic><topic>Genetic Association Studies - methods</topic><topic>Genetic Testing - methods</topic><topic>Germ-Line Mutation</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Li-Fraumeni Syndrome - diagnosis</topic><topic>Li-Fraumeni Syndrome - genetics</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Pharmacotherapy</topic><topic>Review Article</topic><topic>Sarcoma - genetics</topic><topic>Tumor Suppressor Protein p53 - analysis</topic><topic>Tumor Suppressor Protein p53 - genetics</topic><topic>Tumors</topic><toplevel>online_resources</toplevel><creatorcontrib>Sorrell, April D.</creatorcontrib><creatorcontrib>Espenschied, Carin R.</creatorcontrib><creatorcontrib>Culver, Julie O.</creatorcontrib><creatorcontrib>Weitzel, Jeffrey N.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Docstoc</collection><collection>Biotechnology Research Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Molecular diagnosis & therapy</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sorrell, April D.</au><au>Espenschied, Carin R.</au><au>Culver, Julie O.</au><au>Weitzel, Jeffrey N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions</atitle><jtitle>Molecular diagnosis & therapy</jtitle><stitle>Mol Diagn Ther</stitle><addtitle>Mol Diagn Ther</addtitle><date>2013-02</date><risdate>2013</risdate><volume>17</volume><issue>1</issue><spage>31</spage><epage>47</epage><pages>31-47</pages><issn>1177-1062</issn><eissn>1179-2000</eissn><abstract>Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (
TP53
) as a germline mutation continues to evolve. The clinical impact of a germline
TP53
mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the
TP53
tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several
TP53
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TP53
testing dilemmas and unique challenges associated with genetic testing decisions in the current age of rapidly advancing genomic technologies.</abstract><cop>Cham</cop><pub>Springer International Publishing AG</pub><pmid>23355100</pmid><doi>10.1007/s40291-013-0020-0</doi><tpages>17</tpages></addata></record> |
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| subjects | Adrenal Cortex Neoplasms - genetics Biomedical and Life Sciences Biomedicine Brain Neoplasms - genetics Breast cancer Breast Neoplasms - genetics Cancer Research Female Genes Genes, p53 Genetic Association Studies - methods Genetic Testing - methods Germ-Line Mutation Human Genetics Humans Laboratory Medicine Li-Fraumeni Syndrome - diagnosis Li-Fraumeni Syndrome - genetics Molecular Medicine Mutation Pedigree Pharmacotherapy Review Article Sarcoma - genetics Tumor Suppressor Protein p53 - analysis Tumor Suppressor Protein p53 - genetics Tumors |
| title | Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions |
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