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.

Basic information

Original name

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

Authors

LEROY, Bernard (250 France), Mandy L. BALLINGER (36 Australia), Fanny BARAN-MARSZAK (250 France), Gareth L. BOND (826 United Kingdom of Great Britain and Northern Ireland), Antony BRAITHWAITE (554 New Zealand), Nicole CONCIN (40 Austria), Lawrence A. DONEHOWER (840 United States of America), Wafik S. EL-DEIRY (840 United States of America), Pierre FENAUX (250 France), Gianluca GAIDANO (380 Italy), Anita LANGEROD (578 Norway), Eva HELLSTROM-LINDBERG (752 Sweden), Richard IGGO (250 France), Jacqueline LEHMANN-CHE (250 France), Phuong L. MAI (840 United States of America), David MALKIN (124 Canada), Ute M. MOLL (840 United States of America), Jeffrey N. MYERS (840 United States of America), Kim E. NICHOLS (840 United States of America), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution), Patricia ASHTON-PROLLA (76 Brazil), Davide ROSSI (380 Italy), Sharon A. SAVAGE (840 United States of America), Louise C. STRONG (840 United States of America), Patricia N. TONIN (124 Canada), Robert ZEILLINGER (40 Austria), Thorsten ZENZ (276 Germany), Joseph F. FRAUMENI (840 United States of America), Peter E. M. TASCHNER (528 Netherlands), Pierre HAINAUT (250 France) and Thierry SOUSSI (250 France)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 9.130

RIV identification code

RIV/00216224:14740/17:00097344

Organization unit

Central European Institute of Technology

DOI

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

UT WoS

000396845600002

Keywords in English

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

Tags

OA, rivok

Tags

International impact, Reviewed
Změněno: 23/3/2018 13:36, Mgr. Pavla Foltynová, Ph.D.

Abstract

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.

Links

LQ1601, research and development project
Name: CEITEC 2020 (Acronym: CEITEC2020)
Investor: Ministry of Education, Youth and Sports of the CR
Displayed: 2/11/2024 20:26