Xcode Life

Condition: Li-Fraumeni Syndrome

rs137853007 in CHEK2 gene and Li-Fraumeni Syndrome

PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 11719428 2001 Here, we describe a CHK2 missense mutation (R145W) in another LFS family.

PMID 15520402 2004 Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers.

PMID 19338683 2009 The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

PMID 27751358 2016 Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

rs1057517840 in TP53 gene and Li-Fraumeni Syndrome

PMID 8639798 1996 The p53 gene in pediatric therapy-related leukemia and myelodysplasia.

PMID 1737852 1992 Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.

PMID 17392385 2007 American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

PMID 12826609 2003 Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 1978757 1990 Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

PMID 8825920 1995 An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

PMID 9452042 1998 A germline missense mutation R337C in exon 10 of the human p53 gene.

PMID 10484981 1999 Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

PMID 1933902 1991 A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

PMID 1565144 1992 Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.

PMID 7887414 1995 Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

PMID 2259385 1991 Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

PMID 12917626 2003 Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

PMID 18628487 2008 The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival.

PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 22319594 2012 Benzo[a]pyrene, aflatoxine B₁ and acetaldehyde mutational patterns in TP53 gene using a functional assay: relevance to human cancer aetiology.

PMID 25925845 2015 Germline TP53 mutational spectrum in French Canadians with breast cancer.

PMID 16494995 2007 The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 26818906 2016 Genetic and functional analysis of a Li Fraumeni syndrome family in China.

PMID 21343334 2011 Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

PMID 11920959 2002 Complex functions of mutant p53 alleles from human prostate cancer.

PMID 30224644 2018 Mutational processes shape the landscape of TP53 mutations in human cancer.

PMID 20522432 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

PMID 21356188 2011 Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

PMID 10922393 2000 Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.

PMID 20505364 2010 Transactivation by temperature-dependent p53 mutants in yeast and human cells.

PMID 16861262 2007 Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.

PMID 29324801 2018 Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

PMID 21345075 2011 Multiple malignancies in a child with de novo TP53 mutation.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 22829111 2011 Functional assessment of p53 in chronic lymphocytic leukemia.

PMID 9290701 1997 Screening the p53 status of human cell lines using a yeast functional assay.

PMID 22507745 2012 Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

PMID 11051239 2000 Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

PMID 17724467 2008 Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

PMID 18762572 2008 Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.

PMID 23894400 2013 High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

PMID 25584008 2015 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

PMID 20017945 2009 Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.

PMID 21761402 2012 Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

PMID 27501770 2016 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

PMID 27328919 2016 TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.

PMID 20198344 2010 Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

PMID 24382691 2014 Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

PMID 10980596 2000 Novel p53 splice site mutations in three families with Li-Fraumeni syndrome.

PMID 17606709 2007 Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

PMID 20128691 2010 Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

PMID 2046748 1991 The p53 tumour suppressor gene.

PMID 15381368 2004 Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.

PMID 21601526 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

PMID 1359493 1992 p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.

PMID 9242456 1997 Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

PMID 1565143 1992 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

PMID 21305319 2011 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.

PMID 23538418 2013 Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.

PMID 24076587 2014 Mapping the p53 transcriptome universe using p53 natural polymorphs.

PMID 21445056 2011 Gain of function of mutant p53 by coaggregation with multiple tumor suppressors.

PMID 21552135 2011 Gastric cancer in individuals with Li-Fraumeni syndrome.

PMID 16778209 2006 Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.

PMID 23897043 2013 Validation of a yeast functional assay for p53 mutations using clonal sequencing.

PMID 9667734 1998 Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.

PMID 22653678 2012 Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.

PMID 24603336 2014 Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.

PMID 23667202 2013 A young woman with bilateral breast cancer: identifying a genetic cause and implications for management.

PMID 9825943 1998 Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.

PMID 23950206 2013 Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.

PMID 22713868 2012 Mutant p53: one name, many proteins.

PMID 9598730 1998 Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

PMID 8425176 1993 Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.

PMID 8099841 1993 Gain of function mutations in p53.

PMID 19378321 2009 Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.

PMID 22919068 2012 FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma.

PMID 8527048 1995 The first documentation of Li-Fraumeni syndrome in Korea.

PMID 17427234 2008 It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.

PMID 17417627 2007 p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM.

PMID 1631137 1992 Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 12692171 2003 American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 25896519 2015 Germline TP53 variants and susceptibility to osteosarcoma.

PMID 20805372 2010 A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

PMID 21059199 2010 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

PMID 1679237 1991 Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

PMID 8164043 1994 Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma.

PMID 12726864 2003 p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis.

PMID 19930417 2010 Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

PMID 2531845 1989 Mutations in the p53 gene occur in diverse human tumour types.

PMID 2554494 1989 p53: a frequent target for genetic abnormalities in lung cancer.

PMID 27276934 2017 The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

PMID 20407015 2010 Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

PMID 11429705 2001 p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.

PMID 9364015 1997 Simple identification of dominant p53 mutants by a yeast functional assay.

PMID 9839505 1998 Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation.

PMID 21232794 2011 A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

PMID 1591732 1992 Screening for germ line TP53 mutations in breast cancer patients.

PMID 12885464 2003 A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

PMID 7783166 1995 Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

PMID 25119136 2014 The p53-reactivating small molecule RITA induces senescence in head and neck cancer cells.

PMID 22052707 2012 TP53 mutations and polymorphisms in primary myelofibrosis.

PMID 1737852 1992 One pedigree was consistent with the Li-Fraumeni syndrome, and bone marrow from both diagnosis and remission indicated a germline G to T transversion at codon 272 (valine to leucine).

PMID 9704930 1998 Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.

PMID 8649785 1996 A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

PMID 10864200 2000 P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

PMID 10719737 2000 Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers.

PMID 16007150 2005 The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

PMID 12209975 2002 p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma.

PMID 16033918 2006 Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.

PMID 16907706 2006 Geographical variations in TP53 mutational spectrum in ovarian carcinomas.

PMID 23733769 2013 Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.

PMID 21192060 2011 The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.

PMID 19717094 2009 Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

PMID 19454241 2009 Evaluation of transcriptional activity of p53 in individual living mammalian cells.

PMID 24702488 2015 Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

PMID 19101993 2009 Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.

PMID 20234365 2010 Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status.

PMID 8118819 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

PMID 23630318 2013 Small molecule induced reactivation of mutant p53 in cancer cells.

PMID 19556618 2009 High frequency of de novo mutations in Li-Fraumeni syndrome.

PMID 22923379 2012 Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

PMID 15977174 2005 The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.

PMID 15037740 2004 A global suppressor motif for p53 cancer mutants.

PMID 18307025 2008 Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.

PMID 10432928 1999 Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.

PMID 10589545 1999 Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.

PMID 17015838 2006 Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.

PMID 9662334 1998 Transcriptional regulation of the c-H-ras1 gene by the P53 protein is implicated in the development of human endometrial and ovarian tumours.

PMID 8479749 1993 Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.

PMID 24677579 2014 Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.

PMID 7969167 1994 Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2.

PMID 21535297 2011 "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."

PMID 17540308 2007 EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.

PMID 2826609 1988 Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS.

PMID 20693561 2011 Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.

PMID 9067756 1997 Three germline mutations in the TP53 gene.

PMID 23255406 2013 Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

PMID 27726232 2017 Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.

PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

PMID 24573247 2014 Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.

PMID 8062826 1994 Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

PMID 20516128 2010 The tumor suppressor p53: from structures to drug discovery.

PMID 16401470 2006 Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.

PMID 23263379 2013 p53 mutations in cancer.

PMID 15607981 2004 Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome.

PMID 23792586 2013 A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion.

PMID 12007217 2002 The IARC TP53 database: new online mutation analysis and recommendations to users.

PMID 15607980 2004 Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 9546439 1998 Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast.

PMID 11370630 2001 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.

PMID 25757876 2015 Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.

PMID 18685109 2008 Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

PMID 26014290 2015 Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

PMID 23639785 2013 Identification of novel mutations of TP53, ALK and RET gene in metastatic thymic squamous cell carcinoma and its therapeutic implication.

PMID 23409989 2013 Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

PMID 14656244 2003 Novel p53 germline mutation in a patient with Li-Fraumeni syndrome.

PMID 17224268 2007 Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

PMID 12725534 2003 Differentially expressed downstream genes in cells with normal or mutated p53.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 12610779 2003 Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

PMID 28475293 2017 Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas.

PMID 24630730 2014 Synonymous mutations frequently act as driver mutations in human cancers.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 23031740 2012 Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy.

PMID 16312222 2005 Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas.

PMID 26585234 2015 Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.

PMID 19468865 2009 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

PMID 22672556 2012 Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

PMID 24835218 2014 Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.

PMID 24122735 2013 Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

PMID 26205489 2015 Regulation of the p53 response and its relationship to cancer.

PMID 27621308 2016 Acute myeloid leukemia with TP53 germ line mutations.

PMID 26225655 2015 Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.

PMID 7565304 1995 p53 gene mutations in pediatric brain tumors.

PMID 12885464 2003 We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.

PMID 23406775 2013 Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent.

PMID 9218725 1997 Li-Fraumeni syndrome--a molecular and clinical review.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 8550239 1995 Incidence of germ-line p53 mutations in patients with gliomas.

PMID 15951970 2005 The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

PMID 15722483 2005 Mutant p53 proteins bind DNA in a DNA structure-selective mode.

PMID 17311302 2007 Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

PMID 15925506 2005 Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

PMID 10519380 1999 Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.

PMID 21484931 2011 Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.

PMID 17636407 2007 p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.

PMID 22899716 2012 Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species.

PMID 12672316 2003 Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

PMID 15390294 2004 Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.

PMID 7732013 1995 A simple p53 functional assay for screening cell lines, blood, and tumors.

PMID 19881536 2010 A common gain of function of p53 cancer mutants in inducing genetic instability.

PMID 9047394 1997 A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

PMID 27374712 2016 Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

PMID 20689556 2011 Mutant p53(R175H) upregulates Twist1 expression and promotes epithelial-mesenchymal transition in immortalized prostate cells.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 23625637 2013 Serine substitution of proline at codon 151 of TP53 confers gain of function activity leading to anoikis resistance and tumor progression of head and neck cancer cells.

PMID 7881428 1994 A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors.

PMID 10713666 2000 Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy.

PMID 25226867 2015 Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

PMID 10064694 1999 p53 mutants without a functional tetramerisation domain are not oncogenic.

PMID 19806023 2009 Characterization of a new cancer-associated mutant of p53 with a missense mutation (K351N) in the tetramerization domain.

PMID 9766574 1998 Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.

PMID 25981898 2015 TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family.

PMID 20978130 2011 Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

PMID 19714490 2009 The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.

PMID 23175693 2013 Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.

PMID 26000489 2015 Integrative clinical genomics of advanced prostate cancer.

PMID 24797764 2014 ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma.

PMID 27101868 2016 TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy.

PMID 7981076 1994 Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance.

PMID 1581912 1992 Inherited p53 gene mutations in breast cancer.

PMID 8102535 1993 Prognostic significance of TP53 alterations in breast carcinoma.

PMID 15580553 2005 Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

PMID 8308926 1994 Germline p53 gene mutations in subsets of glioma patients.

PMID 27496084 2016 Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 7978053 1994 Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma.

PMID 17567834 2007 Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 21225465 2011 Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.

PMID 8134126 1994 Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.

PMID 16534790 2007 Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma.

PMID 21626334 2011 Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.

PMID 10486318 1999 Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.

PMID 22203015 2012 Clinical impact of TP53 alterations in adrenocortical carcinomas.

PMID 9301461 1997 The status of p53 in the metastatic progression of colorectal cancer.

PMID 8887616 1996 Detection of p53 gene mutations in cytopathology and biopsy specimens from patients with lung cancer.

PMID 11420676 2001 Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 1918170 1991 Transforming activity of mutant human p53 alleles.

PMID 8075648 1994 Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.

PMID 23484829 2013 Increased oxidative metabolism in the Li-Fraumeni syndrome.

PMID 22170717 2012 TP53 germline mutations in adult patients with adrenocortical carcinoma.

PMID 9681828 1998 Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.

PMID 25945745 2015 DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.

PMID 21348412 2010 Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.

PMID 1467311 1992 Germ-line splicing mutation of the p53 gene in a cancer-prone family.

PMID 16736287 2006 Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation.

PMID 18208484 2008 Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.

PMID 23259501 2012 Number of rare germline CNVs and TP53 mutation types.

PMID 17541742 2008 Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 24384472 2014 The impact of R213 mutation on p53-mediated p21 activity.

PMID 8080050 1994 Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.

PMID 7707106 1995 Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 25433984 2015 EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.

PMID 17530187 2007 The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells.

PMID 11896595 2002 Tumour p53 mutations exhibit promoter selective dominance over wild type p53.

PMID 26497680 2015 Mutant p53 confers chemoresistance in non-small cell lung cancer by upregulating Nrf2.

PMID 12509279 2002 A novel p53 mutant retained functional activity in lung carcinomas.

PMID 16633321 2006 [Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma].

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 11358831 2001 TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution.

PMID 12695689 2003 Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol.

PMID 10229196 1999 Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.

PMID 24256616 2013 Identification of new p53 target microRNAs by bioinformatics and functional analysis.

PMID 17390010 2007 Oncogenic mutation of the p53 gene derived from head and neck cancer prevents cells from undergoing apoptosis after DNA damage.

PMID 25293557 2015 Germline TP53 mutations is common in patients with two early-onset primary malignancies.

PMID 17572079 2007 Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

PMID 20932800 2010 p53 post-translational modification: deregulated in tumorigenesis.

PMID 20967502 2011 Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.

PMID 19756158 2009 Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.

PMID 17308077 2007 Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

PMID 25234657 2014 Tongue carcinoma infrequently harbor common actionable genetic alterations.

PMID 24764719 2014 Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 21339461 2011 Multiple primary cutaneous melanomas in Li-Fraumeni syndrome.

PMID 20455025 2010 One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.

PMID 9704931 1998 Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.

PMID 9150393 1997 Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family.

PMID 27866339 2017 Recurrent TP53 missense mutation in cancer patients of Arab descent.

PMID 28486781 2017 Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

PMID 20471942 2010 DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

PMID 12067251 2002 Reactive oxygen species generated by PAH o-quinones cause change-in-function mutations in p53.

PMID 26086041 2015 Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

PMID 21934104 2011 Familial pediatric endocrine tumors.

PMID 15654279 2005 Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome.

PMID 7966399 1994 High frequency of germline p53 mutations in childhood adrenocortical cancer.

PMID 16337994 2006 Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan.

PMID 20878954 2011 The plasmacytoid carcinoma of the bladder--rare variant of aggressive urothelial carcinoma.

PMID 16818505 2006 Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).

PMID 21115975 2011 DNA damage-induced transcriptional program in CLL: biological and diagnostic implications for functional p53 testing.

PMID 24590827 2014 TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas.

PMID 14673037 2003 TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms.

PMID 25634208 2015 Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer.

PMID 22866089 2011 TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.

PMID 25504633 2015 Wee-1 kinase inhibition overcomes cisplatin resistance associated with high-risk TP53 mutations in head and neck cancer through mitotic arrest followed by senescence.

PMID 27179933 2016 Strong synergy with APR-246 and DNA-damaging drugs in primary cancer cells from patients with TP53 mutant High-Grade Serous ovarian cancer.

PMID 25691460 2015 Evolutionary Action Score of TP53 Coding Variants Is Predictive of Platinum Response in Head and Neck Cancer Patients.

PMID 26781615 2016 TP53 mutations in older adults with acute myeloid leukemia.

PMID 8023157 1994 Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.

PMID 28369373 2017 Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

PMID 16969106 2006 Oligomerization of p53 precedes its association with dynein and nuclear accumulation.

PMID 26425688 2015 TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.

PMID 19714490 2009 The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries.

PMID 21665182 2011 Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

PMID 20436704 2010 TP53 mutations in Korean patients with non-small cell lung cancer.

PMID 19711436 2009 De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system.

PMID 26718964 2016 Complex analysis of the p53 tumor suppressor in lung carcinoma.

PMID 22178617 2012 p53 requires an intact C-terminal domain for DNA binding and transactivation.

PMID 25794615 2015 The p53 C terminus controls site-specific DNA binding and promotes structural changes within the central DNA binding domain.

PMID 12700230 2003 Kinetic instability of p53 core domain mutants: implications for rescue by small molecules.

PMID 19405127 2009 Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer.

PMID 19850740 2009 Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 20308654 2010 TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

PMID 22265402 2012 Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

PMID 9627118 1998 Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

PMID 25587027 2014 The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

PMID 25544776 2015 The anti-leukemic activity of sodium dichloroacetate in p53mutatednull cells is mediated by a p53-independent ILF3p21 pathway.

PMID 29070607 2018 Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

PMID 9572492 1998 p53 mutations isolated in yeast based on loss of transcription factor activity: similarities and differences from p53 mutations detected in human tumors.

PMID 14584079 2003 Familial sarcoma: challenging pedigrees.

PMID 22710932 2012 Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells.

PMID 9525742 1998 A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect.

PMID 10871862 2000 Identification of a tumor-derived p53 mutant with novel transactivating selectivity.

PMID 25122428 2014 Therapeutic priority of the PI3K/AKT/mTOR pathway in small cell lung cancers as revealed by a comprehensive genomic analysis.

PMID 22187033 2012 High frequency of complex TP53 mutations in CNS metastases from breast cancer.

PMID 22551440 2012 Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial.

PMID 27150160 2016 Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas.

PMID 29752822 2019 Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.

PMID 21514416 2011 Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

PMID 14559903 2004 Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.

PMID 16474844 2006 Tumor suppressor p53 regulates heparanase gene expression.

PMID 9407971 1997 Abrogation of wild-type p53-mediated transactivation is insufficient for mutant p53-induced immortalization of normal human mammary epithelial cells.

PMID 23967324 2013 Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma.

PMID 26230955 2015 TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

PMID 22540896 2012 A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines.

PMID 16209708 2005 Telomerase expression is sufficient for chromosomal integrity in cells lacking p53 dependent G1 checkpoint function.

PMID 24814347 2014 The DNA-binding domain mediates both nuclear and cytosolic functions of p53.