Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
Accurate assessment of gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of inform...
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| Veröffentlicht in: | Cancer research (Chicago, Ill.) Ill.), 2017-03, Vol.77 (6), p.1250-1260 |
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| creator | Leroy, Bernard Ballinger, Mandy L Baran-Marszak, Fanny Bond, Gareth L Braithwaite, Antony Concin, Nicole Donehower, Lawrence A El-Deiry, Wafik S Fenaux, Pierre Gaidano, Gianluca Langerød, Anita Hellstrom-Lindberg, Eva Iggo, Richard Lehmann-Che, Jacqueline Mai, Phuong L Malkin, David Moll, Ute M Myers, Jeffrey N Nichols, Kim E Pospisilova, Sarka Ashton-Prolla, Patricia Rossi, Davide Savage, Sharon A Strong, Louise C Tonin, Patricia N Zeillinger, Robert Zenz, Thorsten Fraumeni, Jr, Joseph F Taschner, Peter E M Hainaut, Pierre Soussi, Thierry |
| description | Accurate assessment of
gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed
as the most commonly mutated gene in human cancer. Analysis of a database of 70,000
variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of
are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing
status in clinical samples. Finally, we discuss how
alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports.
. |
| doi_str_mv | 10.1158/0008-5472.CAN-16-2179 |
| format | Article |
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gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed
as the most commonly mutated gene in human cancer. Analysis of a database of 70,000
variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of
are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing
status in clinical samples. Finally, we discuss how
alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports.
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gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed
as the most commonly mutated gene in human cancer. Analysis of a database of 70,000
variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of
are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing
status in clinical samples. Finally, we discuss how
alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports.
.</description><subject>Alternative splicing</subject><subject>Biochemistry, Molecular Biology</subject><subject>Bone cancer</subject><subject>Cancer</subject><subject>Exons</subject><subject>Genetic Variation - genetics</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Head & neck cancer</subject><subject>Head and neck</subject><subject>Health risks</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Liver</subject><subject>Neoplasms - diagnosis</subject><subject>Neoplasms - genetics</subject><subject>Neoplasms - therapy</subject><subject>Nomenclature</subject><subject>Osteosarcoma</subject><subject>p53 Protein</subject><subject>Practice Guidelines as Topic - standards</subject><subject>Quality Control</subject><subject>Sarcoma</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><subject>Tumors</subject><subject>Validation Studies as Topic</subject><issn>0008-5472</issn><issn>1538-7445</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNpdUl1v1DAQtBCIHoWfALLEC0hN8bedF6RTRFukE5Sq8Go5jtO6zdmHnbTqv8fhjhPtk727M7O79gDwFqNjjLn6hBBSFWeSHDfLbxUWFcGyfgYWmFNVScb4c7DYYw7Aq5xvSsgx4i_BAVGEMyXwAtxeOBvXaxc618HTyXdu8MFl2McEf5nBd2b0MRzBH1MJxgfYxDCmOBxBEzp44TYxjT5cwdjDy3NOCyV5E8YMfYBNUfLWDPA8GTt6616DF70ZsnuzOw_Bz5Mvl81Ztfp--rVZriorSD1WyjGhMC4D9R3FiKBWKmpq2qOWSky5o1KwViGBLe9wXRthuh456YRVRNCWHoJqq5vv3WZq9Sb5tUkPOhqvd6nbcnOa1UrUtOA_b_GlsnaddWVFMzyiPa4Ef62v4p2WjEuCRBH4uBW4fkI7W670nEOEMsp4fYcL9sOuWYq_J5dHvfbZumEwwcUpa6zK5zHBKSnQ90-gN3FKoTydxrWihEn8tznfomyKOSfX7yfASM9W0bMN9GwDXayisdCzVQrv3f9b71n_vEH_APHNua8</recordid><startdate>20170315</startdate><enddate>20170315</enddate><creator>Leroy, Bernard</creator><creator>Ballinger, Mandy L</creator><creator>Baran-Marszak, Fanny</creator><creator>Bond, Gareth L</creator><creator>Braithwaite, Antony</creator><creator>Concin, Nicole</creator><creator>Donehower, Lawrence A</creator><creator>El-Deiry, Wafik S</creator><creator>Fenaux, Pierre</creator><creator>Gaidano, Gianluca</creator><creator>Langerød, Anita</creator><creator>Hellstrom-Lindberg, Eva</creator><creator>Iggo, Richard</creator><creator>Lehmann-Che, Jacqueline</creator><creator>Mai, Phuong L</creator><creator>Malkin, David</creator><creator>Moll, Ute M</creator><creator>Myers, Jeffrey N</creator><creator>Nichols, Kim E</creator><creator>Pospisilova, Sarka</creator><creator>Ashton-Prolla, Patricia</creator><creator>Rossi, Davide</creator><creator>Savage, Sharon A</creator><creator>Strong, Louise C</creator><creator>Tonin, Patricia N</creator><creator>Zeillinger, Robert</creator><creator>Zenz, Thorsten</creator><creator>Fraumeni, Jr, Joseph F</creator><creator>Taschner, Peter E M</creator><creator>Hainaut, Pierre</creator><creator>Soussi, Thierry</creator><general>American Association for Cancer Research, Inc</general><general>American Association for Cancer Research</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0002-3723-2927</orcidid><orcidid>https://orcid.org/0000-0001-8184-3293</orcidid><orcidid>https://orcid.org/0000-0001-5752-9763</orcidid><orcidid>https://orcid.org/0000-0001-6685-3354</orcidid></search><sort><creationdate>20170315</creationdate><title>Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice</title><author>Leroy, Bernard ; Ballinger, Mandy L ; Baran-Marszak, Fanny ; Bond, Gareth L ; Braithwaite, Antony ; Concin, Nicole ; Donehower, Lawrence A ; El-Deiry, Wafik S ; Fenaux, Pierre ; Gaidano, Gianluca ; Langerød, Anita ; Hellstrom-Lindberg, Eva ; Iggo, Richard ; Lehmann-Che, Jacqueline ; Mai, Phuong L ; Malkin, David ; Moll, Ute M ; Myers, Jeffrey N ; Nichols, Kim E ; Pospisilova, Sarka ; Ashton-Prolla, Patricia ; Rossi, Davide ; Savage, Sharon A ; Strong, Louise C ; Tonin, Patricia N ; Zeillinger, Robert ; Zenz, Thorsten ; Fraumeni, Jr, Joseph F ; Taschner, Peter E M ; Hainaut, Pierre ; Soussi, Thierry</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c629t-8e46811dedfd31020b783a93f0b37135e3764b8061c5d199a6adf0e7e6c8263b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Alternative splicing</topic><topic>Biochemistry, Molecular Biology</topic><topic>Bone cancer</topic><topic>Cancer</topic><topic>Exons</topic><topic>Genetic Variation - 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gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed
as the most commonly mutated gene in human cancer. Analysis of a database of 70,000
variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of
are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing
status in clinical samples. Finally, we discuss how
alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports.
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| ispartof | Cancer research (Chicago, Ill.), 2017-03, Vol.77 (6), p.1250-1260 |
| issn | 0008-5472 1538-7445 |
| language | eng |
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| source | MEDLINE; American Association for Cancer Research; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SWEPUB Freely available online |
| subjects | Alternative splicing Biochemistry, Molecular Biology Bone cancer Cancer Exons Genetic Variation - genetics Genomes Genomics Head & neck cancer Head and neck Health risks Humans Life Sciences Liver Neoplasms - diagnosis Neoplasms - genetics Neoplasms - therapy Nomenclature Osteosarcoma p53 Protein Practice Guidelines as Topic - standards Quality Control Sarcoma Tumor Suppressor Protein p53 - genetics Tumors Validation Studies as Topic |
| title | Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice |
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