Condition: LI-FRAUMENI SYNDROME 1


rs11540652 in TP53 gene and LI-FRAUMENI SYNDROME 1 PMID 18511570 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

PMID 11139324 2001 Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

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

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

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

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

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

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

PMID 23161690 2013 The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis.

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

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

PMID 21192060 2011 Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil.

PMID 27663983 2016 The Inherited p53 Mutation in the Brazilian Population.

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

PMID 11753428 2002 A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

PMID 26681051 2015 R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

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

PMID 27223487 2016 Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.

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

PMID 26572807 2016 Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.

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

PMID 26452166 2015 Occurrence of Neuroblastoma among TP53 p.R337H Carriers.

PMID 11315715 2000 A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy?

PMID 11494139 2001 Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome.

PMID 21080251 2011 Genetic mutations of p53 and k-ras in gastric carcinoma patients from Hunan, China.

PMID 17690113 2007 Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population.

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

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

PMID 19012332 2009 Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.

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 8829627 1996 Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.

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

PMID 26878390 2016 Gain of function of mutant p53: R282W on the peak?

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 25619955 2015 Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.

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

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

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

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

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

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

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

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

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

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

PMID 16551709 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

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

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

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

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

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

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

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

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 25787918 2015 A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

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

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

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

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

PMID 22233476 2012 Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

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 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

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

PMID 26484312 2015 Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

PMID 15221755 2004 Functional protein microarrays for parallel characterisation of p53 mutants.

PMID 18818522 2008 Mutant p53 protein localized in the cytoplasm inhibits autophagy.

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

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

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

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

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

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

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

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

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

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

PMID 28477316 2018 Gestational choriocarcinoma associated with a germline TP53 mutation.

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

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

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

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

PMID 21464421 2011 Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome.

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 18414213 2008 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

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

PMID 22733133 2013 The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression.

PMID 9764816 1998 Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

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

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

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

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

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

PMID 20575032 2010 A specific linkage between the incidence of TP53 mutations and type of chromosomal translocations in B-precursor acute lymphoblastic leukemia cell lines.

PMID 9067756 1997 Three germline mutations in the TP53 gene.