Recommended Guidelines for Validation, Quality Control, and
Reporting of TP53 Variants in Clinical Practice

J 2017

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

LEROY, Bernard, Mandy L. BALLINGER, Fanny BARAN-MARSZAK, Gareth L. BOND, Antony BRAITHWAITE et. al.

Základní údaje

Originální název

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

Autoři

LEROY, Bernard (250 Francie), Mandy L. BALLINGER (36 Austrálie), Fanny BARAN-MARSZAK (250 Francie), Gareth L. BOND (826 Velká Británie a Severní Irsko), Antony BRAITHWAITE (554 Nový Zéland), Nicole CONCIN (40 Rakousko), Lawrence A. DONEHOWER (840 Spojené státy), Wafik S. EL-DEIRY (840 Spojené státy), Pierre FENAUX (250 Francie), Gianluca GAIDANO (380 Itálie), Anita LANGEROD (578 Norsko), Eva HELLSTROM-LINDBERG (752 Švédsko), Richard IGGO (250 Francie), Jacqueline LEHMANN-CHE (250 Francie), Phuong L. MAI (840 Spojené státy), David MALKIN (124 Kanada), Ute M. MOLL (840 Spojené státy), Jeffrey N. MYERS (840 Spojené státy), Kim E. NICHOLS (840 Spojené státy), Šárka POSPÍŠILOVÁ (203 Česká republika, garant, domácí), Patricia ASHTON-PROLLA (76 Brazílie), Davide ROSSI (380 Itálie), Sharon A. SAVAGE (840 Spojené státy), Louise C. STRONG (840 Spojené státy), Patricia N. TONIN (124 Kanada), Robert ZEILLINGER (40 Rakousko), Thorsten ZENZ (276 Německo), Joseph F. FRAUMENI (840 Spojené státy), Peter E. M. TASCHNER (528 Nizozemské království), Pierre HAINAUT (250 Francie) a Thierry SOUSSI (250 Francie)

Vydání

Cancer Research, PHILADELPHIA, AMER ASSOC CANCER RESEARCH, 2017, 0008-5472

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 9.130

Kód RIV

RIV/00216224:14740/17:00097344

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1158/0008-5472.CAN-16-2179

UT WoS

000396845600002

Klíčová slova anglicky

LI-FRAUMENI-SYNDROME; CHRONIC LYMPHOCYTIC-LEUKEMIA; MUTANT P53; BREAST-CANCER; GENE-MUTATIONS; TUMOR SUPPRESSION; IN-VIVO; OSTEOSARCOMA; CARRIERS; SARCOMAS

Štítky

OA, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 3. 2018 13:36, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

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.

Návaznosti

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

Citovat

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 a Thierry SOUSSI. Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. Cancer Research. PHILADELPHIA: AMER ASSOC CANCER RESEARCH, 2017, roč. 77, č. 6, s. 1250-1260. ISSN 0008-5472. Dostupné z: https://dx.doi.org/10.1158/0008-5472.CAN-16-2179.

@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 a 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, roč.~77, č.~6, s.~1250-1260. ISSN~0008-5472. Dostupné z: https://dx.doi.org/10.1158/0008-5472.CAN-16-2179.

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