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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 2
1991 5
1992 11
1993 5
1994 6
1995 5
1996 7
1997 8
1998 3
2000 5
2001 12
2002 4
2003 3
2004 5
2005 5
2006 9
2007 6
2008 11
2009 8
2010 12
2011 7
2012 9
2013 8
2014 6
2015 9
2016 10
2017 13
2018 14
2019 13
2020 20
2021 15
2022 13
2023 14
2024 5

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266 results

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Page 1
Pediatric adrenocortical carcinoma.
Ilanchezhian M, Varghese DG, Glod JW, Reilly KM, Widemann BC, Pommier Y, Kaplan RN, Del Rivero J. Ilanchezhian M, et al. Front Endocrinol (Lausanne). 2022 Oct 31;13:961650. doi: 10.3389/fendo.2022.961650. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36387865 Free PMC article. Review.
Adrenocortical carcinoma (ACC) is a rare endocrine malignancy of the adrenal gland with an unfavorable prognosis. It is rare in the pediatric population, with an incidence of 0.2-0.3 patients per million in patients under 20 years old. ...
Adrenocortical carcinoma (ACC) is a rare endocrine malignancy of the adrenal gland with an unfavorable prognosis. It is rare in the p …
The epidemiology of glioma in adults: a "state of the science" review.
Ostrom QT, Bauchet L, Davis FG, Deltour I, Fisher JL, Langer CE, Pekmezci M, Schwartzbaum JA, Turner MC, Walsh KM, Wrensch MR, Barnholtz-Sloan JS. Ostrom QT, et al. Neuro Oncol. 2014 Jul;16(7):896-913. doi: 10.1093/neuonc/nou087. Neuro Oncol. 2014. PMID: 24842956 Free PMC article. Review.
Genomic analyses of glioma have also produced new evidence about risk and prognosis. Recently discovered biomarkers that indicate improved survival include O6-methylguanine-DNA methyltransferase methylation, isocitrate dehydrogenase mutation, and a glioma cytosine-phosphat …
Genomic analyses of glioma have also produced new evidence about risk and prognosis. Recently discovered biomarkers that indicate imp …
Inherited TP53 Mutations and the Li-Fraumeni Syndrome.
Guha T, Malkin D. Guha T, et al. Cold Spring Harb Perspect Med. 2017 Apr 3;7(4):a026187. doi: 10.1101/cshperspect.a026187. Cold Spring Harb Perspect Med. 2017. PMID: 28270529 Free PMC article. Review.
Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to develop predictive algorithms of age of onset and type of cancers in individual patients have not yet found clinical use. ...
Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to …
TP53 mutations in human cancers: origins, consequences, and clinical use.
Olivier M, Hollstein M, Hainaut P. Olivier M, et al. Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a001008. doi: 10.1101/cshperspect.a001008. Cold Spring Harb Perspect Biol. 2010. PMID: 20182602 Free PMC article. Review.
Their diverse types and positions may inform on the nature of mutagenic mechanisms involved in cancer etiology. TP53 mutations are also potential prognostic and predictive markers, as well as targets for pharmacological intervention. ...
Their diverse types and positions may inform on the nature of mutagenic mechanisms involved in cancer etiology. TP53 mutations are also pote …
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26. Eur J Hum Genet. 2020. PMID: 32457520 Free PMC article.
This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinfo …
This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) …
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D, Luo P, Oldfield LE, Gong H, Brunga L, Rabinowicz R, Subasri V, Chan C, Downs T, Farncombe KM, Luu B, Norman M, Sobotka JA, Uju P, Eagles J, Pedersen S, Wellum J, Danesh A, Prokopec SD, Stutheit-Zhao EY, Znassi N, Heisler LE, Jovelin R, Lam B, Lujan Toro BE, Marsh K, Sundaravadanam Y, Torti D, Man C, Goldenberg A, Xu W, Veit-Haibach P, Doria AS, Malkin D, Kim RH, Pugh TJ. Wong D, et al. Cancer Discov. 2024 Jan 12;14(1):104-119. doi: 10.1158/2159-8290.CD-23-0456. Cancer Discov. 2024. PMID: 37874259 Free PMC article.
Multimodal analysis increased our detection rate in patients with an active cancer diagnosis over uni-modal analysis and was able to detect cancer-associated signal(s) in carriers prior to diagnosis with conventional screening (positive predictive value = 67.6%, negative …
Multimodal analysis increased our detection rate in patients with an active cancer diagnosis over uni-modal analysis and was able to detect …
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS. Venkataramany AS, et al. Ann Oncol. 2022 Jun;33(6):578-592. doi: 10.1016/j.annonc.2022.03.011. Epub 2022 Mar 23. Ann Oncol. 2022. PMID: 35339647 Free article. Review.
Within our institutional cohort, we demonstrate splice variants in key regulatory genes (CHEK2, TP53, PIK3R1, MDM2, KDM6A, NF1) that resulted in exon exclusion or splice site alterations, which were predicted to impact functional protein expression and promote tumorigenesi …
Within our institutional cohort, we demonstrate splice variants in key regulatory genes (CHEK2, TP53, PIK3R1, MDM2, KDM6A, NF1) that resulte …
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Villani A, Shore A, Wasserman JD, Stephens D, Kim RH, Druker H, Gallinger B, Naumer A, Kohlmann W, Novokmet A, Tabori U, Tijerin M, Greer ML, Finlay JL, Schiffman JD, Malkin D. Villani A, et al. Lancet Oncol. 2016 Sep;17(9):1295-305. doi: 10.1016/S1470-2045(16)30249-2. Epub 2016 Aug 5. Lancet Oncol. 2016. PMID: 27501770
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
Wasserman JD, Novokmet A, Eichler-Jonsson C, Ribeiro RC, Rodriguez-Galindo C, Zambetti GP, Malkin D. Wasserman JD, et al. J Clin Oncol. 2015 Feb 20;33(6):602-9. doi: 10.1200/JCO.2013.52.6863. Epub 2015 Jan 12. J Clin Oncol. 2015. PMID: 25584008 Free PMC article.
Mutations result in a broad spectrum of functional loss. Effect of individual mutations may predict carrier and familial disease penetrance with potentially broad implications for clinical surveillance and counseling....
Mutations result in a broad spectrum of functional loss. Effect of individual mutations may predict carrier and familial disease pene …
266 results