VCV000140821.20 - ClinVar

NM_000546.6(TP53):c.844C>G (p.Arg282Gly)

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic

6 out of 7 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000546.6(TP53):c.844C>G (p.Arg282Gly)

Variation ID: 140821 Accession: VCV000140821.20

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17p13.1 17: 7673776 (GRCh38) [ NCBI UCSC ] 17: 7577094 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 8, 2017	Feb 15, 2026	Oct 31, 2025

HGVS

Nucleotide	Protein	Molecular consequence
NM_000546.6:c.844C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000537.3:p.Arg282Gly	missense
NM_001126112.3:c.844C>G	NP_001119584.1:p.Arg282Gly	missense
NM_001126113.3:c.844C>G	NP_001119585.1:p.Arg282Gly	missense
NM_001126114.3:c.844C>G	NP_001119586.1:p.Arg282Gly	missense
NM_001126115.2:c.448C>G	NP_001119587.1:p.Arg150Gly	missense
NM_001126116.2:c.448C>G	NP_001119588.1:p.Arg150Gly	missense
NM_001126117.2:c.448C>G	NP_001119589.1:p.Arg150Gly	missense
NM_001126118.2:c.727C>G	NP_001119590.1:p.Arg243Gly	missense
NM_001276695.3:c.727C>G	NP_001263624.1:p.Arg243Gly	missense
NM_001276696.3:c.727C>G	NP_001263625.1:p.Arg243Gly	missense
NM_001276697.3:c.367C>G	NP_001263626.1:p.Arg123Gly	missense
NM_001276698.3:c.367C>G	NP_001263627.1:p.Arg123Gly	missense
NM_001276699.3:c.367C>G	NP_001263628.1:p.Arg123Gly	missense
NM_001276760.3:c.727C>G	NP_001263689.1:p.Arg243Gly	missense
NM_001276761.3:c.727C>G	NP_001263690.1:p.Arg243Gly	missense
NC_000017.11:g.7673776G>C
NC_000017.10:g.7577094G>C
NG_017013.2:g.18775C>G
LRG_321:g.18775C>G
LRG_321t1:c.844C>G	LRG_321p1:p.Arg282Gly
	P04637:p.Arg282Gly

... more HGVS ... less HGVS

Protein change

R150G, R243G, R282G, R123G

Other names

Canonical SPDI

NC_000017.11:7673775:G:C

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA000453 UniProtKB: P04637#VAR_045384 dbSNP: rs28934574 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TP53		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	3867	3966

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hereditary cancer-predisposing syndrome	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Oct 31, 2025	RCV000129010.10
Ovarian neoplasm	Likely pathogenic (1)	no assertion criteria provided	Dec 1, 2018	RCV000785299.4
Li-Fraumeni syndrome	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Oct 23, 2025	RCV001380073.12
Li-Fraumeni syndrome 1	Pathogenic (1)	criteria provided, single submitter	Jun 18, 2022	RCV002288620.3
not provided	Pathogenic (1)	criteria provided, single submitter	May 23, 2023	RCV004719707.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Jun 24, 2024) C Contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Li-Fraumeni syndrome	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV005203953.1 First in ClinVar: Sep 16, 2024 Last updated: Sep 16, 2024	Publications: PubMed (26) PubMed: 11782540‚ 12826609‚ 15850016‚ 16818505‚ 17606709‚ 18511570‚ 20407015‚ 21343334‚ 21519010‚ 22186996‚ 22915647‚ 23246812‚ 25381062‚ 25952993‚ 26230955‚ 26556299‚ 26585234‚ 27276561‚ 27463065‚ 27680515‚ 27895058‚ 27959731‚ 30224644‚ 30327374‚ 31105275‚ 34240179 Comment: show Variant summary: TP53 c.844C>G (p.Arg282Gly) results in a non-conservative amino acid change located in the DNA-binding domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251410 control chromosomes (gnomAD). c.844C>G has been reported in the literature in multiple individuals affected with Li-Fraumeni Syndrome (LFS) and tumors belonging to the LFS spectrum (e.g. Poli_2005, Bougeard_2008, Schrader_2016, Rana_2019, Ceyhan-Birsoy_2021). These data indicate that the variant is likely to be associated with disease. A different variant affecting the same codon has been classified as pathogenic by our lab (c.844C>T, p.R282W), supporting the critical relevance of codon 282 to TP53 protein function. Multiple publications also reported experimental evidence and demonstrated the variant to be non-functional based on transcriptional activity in yeast, and substantially affecting TP53 function in human cell lines (e.g. Kato_2003, Monti_2011, Giacomelli_2018). The following publications have been ascertained in the context of this evaluation (PMID: 30224644, 15850016, 18511570, 26556299, 31105275, 34240179, 12826609). ClinVar contains an entry for this variant (Variation ID: 140821). Based on the evidence outlined above, the variant was classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (May 23, 2023) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV005324863.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024	Comment: show Published functional studies demonstrate a damaging effect: non-functional transactivation and loss of growth suppression activity (Monti et al., 2003; Ferrone et al., 2006; Giacomelli et al., 2018; Kotler et al., 2018); Observed in individuals with TP53-related tumors (Bougeard et al., 2015; Pelttari et al., 2017; Rana et al., 2019; Gao et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21343334, 22672556, 21761402, 21059199, 26619011, 25584008, 29979965, 11370630, 16818505, 12826609, 21305319, 12917626, 30224644, 1565144, 15850016, 23246812, 19468865, 17606709, 1565143, 15510160, 26556299, 30840781, 31105275, 32817165, 26014290, 22768918, 30720243, 28802053, 25847421) (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Oct 31, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Hereditary cancer-predisposing syndrome	Ambry Genetics Accession: SCV000172907.10 First in ClinVar: Aug 06, 2014 Last updated: Jan 11, 2026	Publications: PubMed (9) PubMed: 10864200‚ 12826609‚ 15850016‚ 21059199‚ 21305319‚ 26556299‚ 28802053‚ 29979965‚ 30224644 Comment: show The p.R282G pathogenic mutation (also known as c.844C>G), located in coding exon 7 of the TP53 gene, results from a C to G substitution at nucleotide position 844. The arginine at codon 282 is replaced by glycine, an amino acid with dissimilar properties. This mutation is in the DNA binding domain of the p53 protein and is reported to have loss of transactivation capacity and predicted to affect several p53 isoforms (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration is deficient at growth suppression (Kotler E et al. Mol.Cell, 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet., 2018 Oct;50:1381-1387). It was previously identified in a patient with primary orbital liposarcoma whose family met diagnostic criteria for Li-Fraumeni syndrome (LFS) (Poli T et al. Tumori; 91:96-100). This variant has been detected in at least one individual at an allele fraction that is suggestive of clonal hematopoiesis, a predictor of TP53 pathogenicity (Ambry internal data; Fortuno C et al. Genet Med. 2022 03;24:673-680). Other variant(s) at the same codon, p.R282Q and p.R282W, have been identified in individual(s) with features consistent with Li-Fraumeni syndrome (Chompret et al. 2000 British J Cancer 82(12):1932-1937; Heyman et al. 2010 Radiation Oncology 5:104; Wu et al. 2011 Hum Genet 129:663-673). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this variant is interpreted as a disease-causing mutation. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jun 18, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary cancer-predisposing syndrome	Genome-Nilou Lab Accession: SCV002582449.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: no Observation 1 Collection method: clinical testing Allele origin: germline Affected status: no

Pathogenic (Jun 18, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Li-Fraumeni syndrome 1	Genome-Nilou Lab Accession: SCV002583111.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: no Observation 1 Collection method: clinical testing Allele origin: germline Affected status: no

Pathogenic (Oct 23, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Li-Fraumeni syndrome	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001578015.6 First in ClinVar: May 10, 2021 Last updated: Feb 15, 2026	Publications: PubMed (18) PubMed: 11370630‚ 12826609‚ 1565143‚ 1565144‚ 15850016‚ 17606709‚ 19468865‚ 21305319‚ 21343334‚ 21761402‚ 22672556‚ 23246812‚ 25584008‚ 26014290‚ 26556299‚ 28802053‚ 29979965‚ 30224644 Comment: show This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 282 of the TP53 protein (p.Arg282Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Li-Fraumeni Syndrome (PMID: 15850016, 26014290, 26556299, 28802053). ClinVar contains an entry for this variant (Variation ID: 140821). Invitae Evidence Modeling incorporating data from in vitro experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function with a positive predictive value of 97.5%. Experimental studies have shown that this missense change affects TP53 function (PMID: 12826609, 21343334, 23246812, 29979965, 30224644). This variant disrupts the p.Arg282 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1565143, 1565144, 11370630, 12826609, 17606709, 19468865, 21305319, 21761402, 22672556, 25584008). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Likely pathogenic (Dec 01, 2018) N Not contributing to aggregate classification	no assertion criteria provided	Ovarian neoplasm	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne Accession: SCV000923867.1 First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019	Observation: 1 Collection method: research Allele origin: somatic Affected status: yes more Observation 1 Collection method: research Allele origin: somatic Affected status: yes Platform type: next-gen sequencing

Comment:

Variant summary: TP53 c.844C>G (p.Arg282Gly) results in a non-conservative amino acid change located in the DNA-binding domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251410 control chromosomes (gnomAD). c.844C>G has been reported in the literature in multiple individuals affected with Li-Fraumeni Syndrome (LFS) and tumors belonging to the LFS spectrum (e.g. Poli_2005, Bougeard_2008, Schrader_2016, Rana_2019, Ceyhan-Birsoy_2021). These data indicate that the variant is likely to be associated with disease. A different variant affecting the same codon has been classified as pathogenic by our lab (c.844C>T, p.R282W), supporting the critical relevance of codon 282 to TP53 protein function. Multiple publications also reported experimental evidence and demonstrated the variant to be non-functional based on transcriptional activity in yeast, and substantially affecting TP53 function in human cell lines (e.g. Kato_2003, Monti_2011, Giacomelli_2018). The following publications have been ascertained in the context of this evaluation (PMID: 30224644, 15850016, 18511570, 26556299, 31105275, 34240179, 12826609). ClinVar contains an entry for this variant (Variation ID: 140821). Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

Published functional studies demonstrate a damaging effect: non-functional transactivation and loss of growth suppression activity (Monti et al., 2003; Ferrone et al., 2006; Giacomelli et al., 2018; Kotler et al., 2018); Observed in individuals with TP53-related tumors (Bougeard et al., 2015; Pelttari et al., 2017; Rana et al., 2019; Gao et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21343334, 22672556, 21761402, 21059199, 26619011, 25584008, 29979965, 11370630, 16818505, 12826609, 21305319, 12917626, 30224644, 1565144, 15850016, 23246812, 19468865, 17606709, 1565143, 15510160, 26556299, 30840781, 31105275, 32817165, 26014290, 22768918, 30720243, 28802053, 25847421)

Comment:

The p.R282G pathogenic mutation (also known as c.844C>G), located in coding exon 7 of the TP53 gene, results from a C to G substitution at nucleotide position 844. The arginine at codon 282 is replaced by glycine, an amino acid with dissimilar properties. This mutation is in the DNA binding domain of the p53 protein and is reported to have loss of transactivation capacity and predicted to affect several p53 isoforms (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration is deficient at growth suppression (Kotler E et al. Mol.Cell, 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet., 2018 Oct;50:1381-1387). It was previously identified in a patient with primary orbital liposarcoma whose family met diagnostic criteria for Li-Fraumeni syndrome (LFS) (Poli T et al. Tumori; 91:96-100). This variant has been detected in at least one individual at an allele fraction that is suggestive of clonal hematopoiesis, a predictor of TP53 pathogenicity (Ambry internal data; Fortuno C et al. Genet Med. 2022 03;24:673-680). Other variant(s) at the same codon, p.R282Q and p.R282W, have been identified in individual(s) with features consistent with Li-Fraumeni syndrome (Chompret et al. 2000 British J Cancer 82(12):1932-1937; Heyman et al. 2010 Radiation Oncology 5:104; Wu et al. 2011 Hum Genet 129:663-673). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this variant is interpreted as a disease-causing mutation.

Comment:

This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 282 of the TP53 protein (p.Arg282Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Li-Fraumeni Syndrome (PMID: 15850016, 26014290, 26556299, 28802053). ClinVar contains an entry for this variant (Variation ID: 140821). Invitae Evidence Modeling incorporating data from in vitro experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function with a positive predictive value of 97.5%. Experimental studies have shown that this missense change affects TP53 function (PMID: 12826609, 21343334, 23246812, 29979965, 30224644). This variant disrupts the p.Arg282 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1565143, 1565144, 11370630, 12826609, 17606709, 19468865, 21305319, 21761402, 22672556, 25584008). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.	Ceyhan-Birsoy O	Journal of the National Cancer Institute	2021	PMID: 34240179
Genotype-phenotype associations among panel-based TP53+ subjects.	Rana HQ	Genetics in medicine : official journal of the American College of Medical Genetics	2019	PMID: 31105275
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes.	McNamara CJ	Blood advances	2018	PMID: 30327374
Mutational processes shape the landscape of TP53 mutations in human cancer.	Giacomelli AO	Nature genetics	2018	PMID: 30224644
A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.	Kotler E	Molecular cell	2018	PMID: 29979965
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.	Pelttari LM	Clinical genetics	2018	PMID: 28802053
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.	Döhner H	Blood	2017	PMID: 27895058
The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases.	Stengel A	Leukemia	2017	PMID: 27680515
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes.	Welch JS	The New England journal of medicine	2016	PMID: 27959731
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes.	Kadia TM	Cancer	2016	PMID: 27463065
Genomic Classification and Prognosis in Acute Myeloid Leukemia.	Papaemmanuil E	The New England journal of medicine	2016	PMID: 27276561
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.	Schrader KA	JAMA oncology	2016	PMID: 26556299
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.	Mullany LK	Neoplasia (New York, N.Y.)	2015	PMID: 26585234
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.	Hou HA	Blood cancer journal	2015	PMID: 26230955
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.	Bougeard G	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2015	PMID: 26014290
TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases.	Ok CY	Journal of hematology & oncology	2015	PMID: 25952993
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.	Wasserman JD	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2015	PMID: 25584008
Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways.	Gröschel S	Blood	2015	PMID: 25381062
Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin.	Berge EO	Biochimica et biophysica acta	2013	PMID: 23246812
A novel hierarchical prognostic model of AML solely based on molecular mutations.	Grossmann V	Blood	2012	PMID: 22915647
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.	Kast K	BMC cancer	2012	PMID: 22672556
TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.	Rücker FG	Blood	2012	PMID: 22186996
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.	Melhem-Bertrandt A	Cancer	2012	PMID: 21761402
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.	Jädersten M	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2011	PMID: 21519010
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.	Monti P	Molecular cancer research : MCR	2011	PMID: 21343334
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.	Wu CC	Human genetics	2011	PMID: 21305319
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.	Heymann S	Radiation oncology (London, England)	2010	PMID: 21059199
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.	Jordan JJ	Molecular cancer research : MCR	2010	PMID: 20407015
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.	Pinto C	Familial cancer	2009	PMID: 19468865
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.	Bougeard G	Journal of medical genetics	2008	PMID: 18511570
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.	Monti P	Clinical cancer research : an official journal of the American Association for Cancer Research	2007	PMID: 17606709
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).	Ferrone M	Molecular cancer therapeutics	2006	PMID: 16818505
Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report.	Poli T	Tumori	2005	PMID: 15850016
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.	Kato S	Proceedings of the National Academy of Sciences of the United States of America	2003	PMID: 12826609
A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants.	Friedler A	Proceedings of the National Academy of Sciences of the United States of America	2002	PMID: 11782540
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.	Bougeard G	Journal of medical genetics	2001	PMID: 11370630
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.	Chompret A	British journal of cancer	2000	PMID: 10864200
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.	Malkin D	The New England journal of medicine	1992	PMID: 1565144
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.	Toguchida J	The New England journal of medicine	1992	PMID: 1565143
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Record last updated Feb 15, 2026