LEROY, Bernard, Mandy L. BALLINGER, Fanny BARAN-MARSZAK, Gareth L. BOND, Antony BRAITHWAITE, Nicole CONCIN, Lawrence A. DONEHOWER, Wafik S. EL-DEIRY, Pierre FENAUX, Gianluca GAIDANO, Anita LANGEROD, Eva HELLSTROM-LINDBERG, Richard IGGO, Jacqueline LEHMANN-CHE, Phuong L. MAI, David MALKIN, Ute M. MOLL, Jeffrey N. MYERS, Kim E. NICHOLS, Šárka POSPÍŠILOVÁ, Patricia ASHTON-PROLLA, Davide ROSSI, Sharon A. SAVAGE, Louise C. STRONG, Patricia N. TONIN, Robert ZEILLINGER, Thorsten ZENZ, Joseph F. FRAUMENI, Peter E. M. TASCHNER, Pierre HAINAUT and Thierry SOUSSI. Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. Cancer Research. PHILADELPHIA: AMER ASSOC CANCER RESEARCH, 2017, vol. 77, No 6, p. 1250-1260. ISSN 0008-5472. Available from: https://dx.doi.org/10.1158/0008-5472.CAN-16-2179. |
Other formats:
BibTeX
LaTeX
RIS
@article{1387487, author = {Leroy, Bernard and Ballinger, Mandy L. and BaranandMarszak, Fanny and Bond, Gareth L. and Braithwaite, Antony and Concin, Nicole and Donehower, Lawrence A. and ElandDeiry, Wafik S. and Fenaux, Pierre and Gaidano, Gianluca and Langerod, Anita and HellstromandLindberg, Eva and Iggo, Richard and LehmannandChe, Jacqueline and Mai, Phuong L. and Malkin, David and Moll, Ute M. and Myers, Jeffrey N. and Nichols, Kim E. and Pospíšilová, Šárka and AshtonandProlla, Patricia and Rossi, Davide and Savage, Sharon A. and Strong, Louise C. and Tonin, Patricia N. and Zeillinger, Robert and Zenz, Thorsten and Fraumeni, Joseph F. and Taschner, Peter E. M. and Hainaut, Pierre and Soussi, Thierry}, article_location = {PHILADELPHIA}, article_number = {6}, doi = {http://dx.doi.org/10.1158/0008-5472.CAN-16-2179}, keywords = {LI-FRAUMENI-SYNDROME; CHRONIC LYMPHOCYTIC-LEUKEMIA; MUTANT P53; BREAST-CANCER; GENE-MUTATIONS; TUMOR SUPPRESSION; IN-VIVO; OSTEOSARCOMA; CARRIERS; SARCOMAS}, language = {eng}, issn = {0008-5472}, journal = {Cancer Research}, title = {Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice}, url = {http://cancerres.aacrjournals.org/content/77/6/1250}, volume = {77}, year = {2017} }
TY - JOUR ID - 1387487 AU - 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 - Langerod, Anita - Hellstrom-Lindberg, Eva - Iggo, Richard - Lehmann-Che, Jacqueline - Mai, Phuong L. - Malkin, David - Moll, Ute M. - Myers, Jeffrey N. - Nichols, Kim E. - Pospíšilová, Šárka - Ashton-Prolla, Patricia - Rossi, Davide - Savage, Sharon A. - Strong, Louise C. - Tonin, Patricia N. - Zeillinger, Robert - Zenz, Thorsten - Fraumeni, Joseph F. - Taschner, Peter E. M. - Hainaut, Pierre - Soussi, Thierry PY - 2017 TI - Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice JF - Cancer Research VL - 77 IS - 6 SP - 1250-1260 EP - 1250-1260 PB - AMER ASSOC CANCER RESEARCH SN - 00085472 KW - LI-FRAUMENI-SYNDROME KW - CHRONIC LYMPHOCYTIC-LEUKEMIA KW - MUTANT P53 KW - BREAST-CANCER KW - GENE-MUTATIONS KW - TUMOR SUPPRESSION KW - IN-VIVO KW - OSTEOSARCOMA KW - CARRIERS KW - SARCOMAS UR - http://cancerres.aacrjournals.org/content/77/6/1250 L2 - http://cancerres.aacrjournals.org/content/77/6/1250 N2 - Accurate assessment of TP53 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 TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9 beta and 9 gamma, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrangements in intron 1 of TP53 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 TP53 status in clinical samples. Finally, we discuss how TP53 alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports. (C)2017 AACR. ER -
LEROY, Bernard, Mandy L. BALLINGER, Fanny BARAN-MARSZAK, Gareth L. BOND, Antony BRAITHWAITE, Nicole CONCIN, Lawrence A. DONEHOWER, Wafik S. EL-DEIRY, Pierre FENAUX, Gianluca GAIDANO, Anita LANGEROD, Eva HELLSTROM-LINDBERG, Richard IGGO, Jacqueline LEHMANN-CHE, Phuong L. MAI, David MALKIN, Ute M. MOLL, Jeffrey N. MYERS, Kim E. NICHOLS, Šárka POSPÍŠILOVÁ, Patricia ASHTON-PROLLA, Davide ROSSI, Sharon A. SAVAGE, Louise C. STRONG, Patricia N. TONIN, Robert ZEILLINGER, Thorsten ZENZ, Joseph F. FRAUMENI, Peter E. M. TASCHNER, Pierre HAINAUT and Thierry SOUSSI. Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. \textit{Cancer Research}. PHILADELPHIA: AMER ASSOC CANCER RESEARCH, 2017, vol.~77, No~6, p.~1250-1260. ISSN~0008-5472. Available from: https://dx.doi.org/10.1158/0008-5472.CAN-16-2179.
|