Ian Tomlinson

Director of the Institute of Cancer and Genomic Sciences at the University of Birmingham

DBpedia resource is: http://dbpedia.org/resource/Ian_Tomlinson_(scientist)

Abstract is: Ian Tomlinson FRS FMedSci is a director of the Institute of Cancer and Genomic Sciences at the University of Birmingham.

Ian Tomlinson is …
instance of (P31):
humanQ5

External links are
P2070Fellow of the Royal Society ID14131
P8446Gateway to Research person IDC68CD318-44D7-4513-B052-152D9FD9BA49
P227GND ID102193870X
P2671Google Knowledge Graph ID/g/11h8bs0tv8
P213ISNI0000000135347694
P549Mathematics Genealogy Project ID240608
P496ORCID iD0000-0003-3037-1470
P1153Scopus author ID7103338177
P214VIAF ID316463491
P4789Who's Who UK IDU292883

P166award receivedFellow of the Royal SocietyQ15631401
Fellow of the Academy of Medical SciencesQ24081923
Fellow of the Royal College of PathologistsQ30337212
P185doctoral studentTrevor GrahamQ103015578
Lisa WillisQ103015603
Christopher HornsbyQ103015649
P734family nameTomlinsonQ21450746
TomlinsonQ21450746
TomlinsonQ21450746
P101field of workcolorectal cancerQ188874
P735given nameIanQ18336315
IanQ18336315
P463member ofRoyal SocietyQ123885
P106occupationresearcherQ1650915
P21sex or gendermaleQ6581097

Reverse relations

doctoral advisor (P184)
Q103015649Christopher Hornsby
Q103015603Lisa Willis
Q103015578Trevor Graham

author (P50)
Q56675475'Toxgnostics': an unmet need in cancer medicine
Q3601638611q13 is a susceptibility locus for hormone receptor positive breast cancer
Q3587156719p13.1 is a triple-negative-specific breast cancer susceptibility locus
Q383253227q deletion mapping and expression profiling in uterine fibroids.
Q371698739q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium
Q37005064A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding
Q28709909A basal gradient of Wnt and stem-cell number influences regional tumour distribution in human and mouse intestinal tracts
Q28652720A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
Q34563854A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
Q35755874A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
Q53434280A comparison of the genetic pathways involved in the pathogenesis of three types of colorectal cancer.
Q46046714A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history
Q50645407A comprehensive genetic profile of phyllodes tumours of the breast detects important mutations, intra-tumoral genetic heterogeneity and new genetic changes on recurrence.
Q37205060A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH.
Q80488916A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?
Q57078703A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
Q33747778A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
Q29417084A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.
Q57319748A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci
Q50483571A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.
Q57092250A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
Q34327333A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk
Q55462775A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.
Q37619303A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium
Q34433744A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
Q33465307A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk
Q33677191A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36
Q92711687A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Q35626744A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
Q51930741A nonlinear mathematical model of cell turnover, differentiation and tumorigenesis in the intestinal crypt.
Q83879729A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family
Q30581337A novel test for gene-ancestry interactions in genome-wide association data
Q28272700A panoply of errors: polymerase proofreading domain mutations in cancer
Q57337215A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map
Q38965170A polymorphic enhancer near GREM1 influences bowel cancer risk through differential CDX2 and TCF7L2 binding
Q34228309A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection
Q104475253A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
Q28119198A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
Q34514570A study of genomic instability in early preneoplastic colonic lesions.
Q35218636A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage
Q33979369A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.
Q39932292APC and the three-hit hypothesis
Q47767290APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps
Q35051664APC mutations are sufficient for the growth of early colorectal adenomas
Q42604858APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.
Q35110017APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits"
Q94352344AT-43MULTI-CENTRE, RANDOMIZED, DOUBLE-BLIND PHASE II STUDY COMPARING CEDIRANIB (AZD2171) PLUS GEFITINIB (IRESSA, ZD1839) WITH CEDIRANIB PLUS PLACEBO IN SUBJECTS WITH RECURRENT/PROGRESSIVE GLIOBLASTOMA
Q41263199Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche
Q38436143Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma.
Q39743943Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status
Q57319547Abstract P3-08-04: Impact of CYP3A variation on estrone levels and breast cancer risk
Q46575022Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations
Q39359690Adjuvant capecitabine plus bevacizumab versus capecitabine alone in patients with colorectal cancer (QUASAR 2): an open-label, randomised phase 3 trial
Q52430911Adjuvant treatment for POLE proofreading domain-mutant cancers: sensitivity to radiotherapy, chemotherapy, and nucleoside analogs.
Q58327512Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations
Q39437211Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
Q36620205Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours.
Q54561640Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.
Q40002286Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability
Q57337217Allele loss on chromosome 11q and microsatellite instability in malignant melanoma
Q42581092Allele loss, replication errors and loss of expression of E-cadherin in colorectal cancers
Q77364823Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways
Q54190005Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence.
Q57742283Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium
Q31160002Allelic loss studies do not provide evidence for the "endometriosis-as-tumor" theory
Q64258313An FBXW7-ZEB2 axis links EMT and tumour microenvironment to promote colorectal cancer stem cells and chemoresistance
Q33904733An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome
Q90359296An evaluation of the clinical utility of a panel of variants in DPYD and ENOSF1 for predicting common capecitabine related toxicities
Q36073563An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Q35883287An update on the genetics of colorectal cancer
Q35921785Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival
Q43003884Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases
Q34430311Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
Q39814868Analysis of copy number changes suggests chromosomal instability in a minority of large colorectal adenomas
Q35359948Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
Q40483032Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization.
Q35447238Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families
Q35566216Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene?
Q59238327Are we there yet?
Q40534910Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas
Q80975676Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma
Q97070156Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Q64056497Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Q45979098Association analysis identifies 65 new breast cancer risk loci.
Q30800931Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic
Q37499529Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study
Q37118308Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis
Q37684672Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Q37268494Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Q35022847Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies
Q35532898Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium
Q45403384Attenuated familial adenomatous polyposis: results from an international collaborative study
Q88742240Author Correction: Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel
Q92093535Author Correction: The effects of mutational processes and selection on driver mutations across cancer types
Q28468367BCL9L Dysfunction Impairs Caspase-2 Expression Permitting Aneuploidy Tolerance in Colorectal Cancer
Q44820137BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations
Q38914005BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Q37002955BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Q42049565Bcl-2 expression in colorectal tumors: evidence of different pathways in sporadic and ulcerative-colitis-associated carcinomas
Q47715267Beta-catenin abnormalities and associated insulin-like growth factor overexpression are important in phyllodes tumours and fibroadenomas of the breast
Q53390837Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.
Q36586200Beta-catenin mutations in cell lines established from human colorectal cancers
Q46115524Body mass index and breast cancer survival: a Mendelian randomization analysis
Q38712111Bone morphogenetic protein and Notch signalling crosstalk in poor-prognosis, mesenchymal-subtype colorectal cancer.
Q73608628Bottom-up histogenesis of colorectal adenomas: origin in the monocryptal adenoma and initial expansion by crypt fission
Q100457582Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Q43754455Breast cancer dormancy can be maintained by small numbers of micrometastases.
Q35940158Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Q35562912Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study
Q38690051British Society of Gastroenterology position statement on serrated polyps in the colon and rectum
Q36615641CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population
Q37138668CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer
Q54451003CD24 is upregulated in inflammatory bowel disease and stimulates cell motility and colony formation.
Q46853162CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability
Q41262162CDC4/FBXW7 and the 'just enough' model of tumourigenesis
Q43202513CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers
Q57337219CLINICO-PATHOLOGICAL FEATURES AND p53 EXPRESSION IN LEFT-SIDED SPORADIC COLORECTAL CANCERS WITH AND WITHOUT MICROSATELLITE INSTABILITY
Q33630773COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.
Q91335852CRISPR-Cas9 Causes Chromosomal Instability and Rearrangements in Cancer Cell Lines, Detectable by Cytogenetic Methods
Q36419325CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
Q44288178CYP3A variation, premenopausal estrone levels, and breast cancer risk
Q39012229Cancer predisposition syndromes: lessons for truly precision medicine
Q53261132Cancer. The utility of mouse models in post-GWAS research.
Q38257835Cancer: evolution within a lifetime
Q28385765Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
Q28186388Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway
Q57320090Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci
Q52185208Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.
Q39340083Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism
Q38324266Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair
Q50198699Chromatin organisation and cancer prognosis: a pan-cancer study.
Q33833372Chromosomal instability confers intrinsic multidrug resistance.
Q36455156Chromosomal instability, colorectal cancer and taxane resistance
Q37217138Chromosome 11q in sporadic colorectal carcinoma: patterns of allele loss and their significance for tumorigenesis
Q51673997Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.
Q57337209Clinical and molecular features of the hereditary mixed polyposis syndrome
Q36279825Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Q57337210Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity
Q81425828Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome
Q62978110Clinical management of hereditary colorectal cancer syndromes
Q37328811Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.
Q31027996Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data
Q52611832Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Q58104113Clonality Assessment and Clonal Ordering of Individual Neoplastic Crypts Shows Polyclonality of Colorectal Adenomas
Q39209421Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
Q57319701Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom
Q28276998Colorectal cancer and genetic alterations in the Wnt pathway
Q39001975Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer
Q42857003Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway
Q28538575Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract
Q35047900Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?
Q40296490Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers
Q38940534Common Variants Confer Susceptibility to Barrett's Esophagus: Insights from the First Genome-Wide Association Studies
Q35891162Common breast cancer susceptibility loci are associated with triple-negative breast cancer
Q34075491Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.
Q39382008Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.
Q40034823Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
Q39635548Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia
Q35794653Common germline polymorphisms associated with breast cancer-specific survival
Q34379032Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
Q29417145Common variants at 19p13 are associated with susceptibility to ovarian cancer
Q34298428Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Q28943395Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk
Q46595215Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK.
Q29417133Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
Q31082788Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
Q41916234Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers
Q37023886Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk
Q33842871Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition
Q36026731Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer
Q34181322Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer
Q57266799Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
Q57092309Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma
Q57278898Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
Q28602609Correspondence: SEMA4A variation and risk of colorectal cancer
Q46990507Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
Q100574211Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
Q34994574Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing
Q37354968CpG island methylation is a common finding in colorectal cancer cell lines
Q47321577Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer.
Q37409157Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals
Q85658166Current morphologic criteria perform poorly in identifying hereditary leiomyomatosis and renal cell carcinoma syndrome-associated uterine leiomyomas
Q74620394Cyclin D1 is not an essential target of beta-catenin signaling during intestinal tumorigenesis, but it may act as a modifier of disease severity in multiple intestinal neoplasia (Min) mice
Q37020817DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers
Q40666348DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
Q52893411DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load.
Q28287769DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer
Q36839027Deciphering the 8q24.21 association for glioma
Q37332239Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer
Q50627882Deciphering the genetics of hereditary non-syndromic colorectal cancer.
Q42817159Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours
Q57337208Defects in mismatch repair occur afterAPC mutations in the pathogenesis of sporadic colorectal tumours
Q57567601Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region
Q40383487Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization
Q90763661Detailed Molecular and Immune Marker Profiling of Archival Prostate Cancer Samples Reveals an Inverse Association between TMPRSS2:ERG Fusion Status and Immune Cell Infiltration
Q33852849Detecting low penetrance genes in cancer: the way ahead
Q91254556Detecting repeated cancer evolution from multi-region tumor sequencing data
Q37209240Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/β-catenin signalling thresholds for tumourigenesis.
Q36768782Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy
Q35760908Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.
Q46828694Distinct expression profile in fumarate-hydratase-deficient uterine fibroids
Q34703122Does MSI-low exist?
Q33747777Down-regulation of serum/glucocorticoid regulated kinase 1 in colorectal tumours is largely independent of promoter hypermethylation
Q80418153E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas
Q33245402EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
Q36922505Ectopic expression of P-cadherin correlates with promoter hypomethylation early in colorectal carcinogenesis and enhanced intestinal crypt fission in vivo.
Q46856424Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort
Q42387784Erratum to: Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis
Q42412214Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
Q57083824Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer
Q57319395Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer
Q57244842Erratum: Corrigendum: Replication stress links structural and numerical cancer chromosomal instability
Q61876948Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Q28299100Evaluation of PIK3CA mutation as a predictor of benefit from nonsteroidal anti-inflammatory drug therapy in colorectal cancer
Q33595844Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies
Q54464773Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.
Q35653910Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
Q79353586Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility
Q56437172Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan
Q56437148Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan
Q54660202Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.
Q41532605Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
Q49273548Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Q35597084Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation
Q56437189Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom
Q47883253Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome
Q35064451Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Q37342144Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Q57599267Evolutionary history of human colitis-associated colorectal cancer
Q73883821Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome
Q36392466Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency
Q35598109Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome
Q43086071Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes
Q35594917Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes
Q90347930Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification
Q56992638Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study
Q41670375Expression Profiling of Proliferation and Apoptotic Markers along the Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis Patients
Q85076808Expression of EGFR, HER2, phosphorylated ERK and phosphorylated MEK in colonic neoplasms of familial adenomatous polyposis patients
Q52007591Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.
Q37340787Expression of Idh1(R132H) in the Murine Subventricular Zone Stem Cell Niche Recapitulates Features of Early Gliomagenesis
Q112719456Expression of the cancer-associated DNA polymerase ε P286R in fission yeast leads to translesion synthesis polymerase dependent hypermutation and defective DNA replication
Q42846581Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis
Q50677953F-box and WD repeat domain-containing 7 regulates intestinal cell lineage commitment and is a haploinsufficient tumor suppressor.
Q34577722FBXW7 influences murine intestinal homeostasis and cancer, targeting Notch, Jun, and DEK for degradation
Q28590336FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development
Q38888900FBXW7-mutated colorectal cancer cells exhibit aberrant expression of phosphorylated-p53 at Serine-15.
Q37594336FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
Q36147983Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Q33758794Failure of programmed cell death and differentiation as causes of tumors: some simple mathematical models
Q37185985Familial adenomatous polyposis and the small bowel: a loco-regional review and current management strategies
Q37236216Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Q36111237Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
Q35524465Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Q61230414Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
Q92480972Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Q35056061Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
Q35063160Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
Q39844032Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Q36248936Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk
Q34903062Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Q37367871Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Q37002930Five endometrial cancer risk loci identified through genome-wide association analysis
Q33405757Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice
Q91528378Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer
Q35840995Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas
Q64065191Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years
Q54676197From genome to proteome--aim of human proteomics.
Q36124728Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Q36742577Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Q34535544Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.
Q36555751GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer
Q38408978GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer
Q37635792General lessons from large-scale studies to identify human cancer predisposition genes
Q26786469Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis
Q37389405Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Q61644477Genetic Susceptibility to Cancer
Q36618884Genetic aberrations in glioblastoma multiforme: translocation of chromosome 10 in an O-2A-like cell line
Q46162485Genetic analysis of lobular carcinoma in situ and associated invasive lobular cancer
Q73424214Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
Q33863400Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice
Q54453105Genetic determinants modulate susceptibility to pregnancy-associated tumourigenesis in a recombinant line of Min mice.
Q35881821Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.
Q35109800Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis
Q37739048Genetic modifiers of CHEK2*1100delC-associated breast cancer risk
Q54940815Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
Q33711610Genetic pathways in colorectal and other cancers
Q57337198Genetic pathways in colorectal and other cancers
Q35925620Genetic predisposition to ductal carcinoma in situ of the breast
Q35151684Genetic predisposition to in situ and invasive lobular carcinoma of the breast
Q91362827Genetic predisposition to mosaic Y chromosome loss in blood
Q61229415Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers
Q37523207Genetic prognostic and predictive markers in colorectal cancer
Q37229689Genetic prognostic markers in colorectal cancer
Q26740556Genetic susceptibility to Barrett's oesophagus: Lessons from early studies
Q57337212Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled
Q35179897Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Q34378972Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
Q36422109Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium
Q30000080Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
Q58104567Genetics of inflammatory bowel disease and associated cancers
Q47985907Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases
Q36842233Genome-wide association analysis identifies three new breast cancer susceptibility loci
Q35996692Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Q37422744Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
Q24622610Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Q34537405Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis
Q45068755Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci
Q95329367Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Q29417135Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Q36024614Genome-wide association study identifies a possible susceptibility locus for endometrial cancer
Q64040390Genome-wide association study of germline variants and breast cancer-specific mortality
Q57214846Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk
Q47651868Genomic instability--the engine of tumorigenesis?
Q40296913Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme.
Q35990970Genomic stability and tumorigenesis
Q57742277Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
Q37594356Germline CDH1 mutations in bilateral lobular carcinoma in situ
Q42005199Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer
Q33681468Germline PTEN mutations in Cowden syndrome-like families.
Q90371334Germline RET variants underlie a subset of paediatric osteosarcoma
Q28286394Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers
Q41356138Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
Q28185113Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability
Q42841809Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer
Q42844768Germline epimutations of APC are not associated with inherited colorectal polyposis
Q24617520Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Q42854967Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
Q34020502Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes
Q34115940Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
Q43074214Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype
Q34503694Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients
Q30579114Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study
Q39530717Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma
Q104261158Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma
Q91524449Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)
Q38747962HOT mutation screening in human glioblastomas
Q34208791Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase
Q89832983Hand-foot syndrome is a biomarker of improved survival following treatment with capecitabine
Q36276540Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization
Q36072197Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment
Q41263488Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Q45506226High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders
Q94655389Histological phenotypic subtypes predict recurrence risk and response to adjuvant chemotherapy in patients with stage III colorectal cancer
Q48295820Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
Q41834410How many mutations in a cancer?
Q35102646Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Q36859142Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Q57170142Identification of nine new susceptibility loci for endometrial cancer
Q36014067Identification of novel genetic markers of breast cancer survival
Q34048230Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
Q46103372Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Q97635532Image-based consensus molecular subtype (imCMS) classification of colorectal cancer using deep learning
Q40310422Implications of polygenic risk for personalised colorectal cancer screening
Q72999921In situ analysis of LKB1/STK11 mRNA expression in human normal tissues and tumours
Q100490137In-depth clinical and biological exploration of DNA Damage Immune Response (DDIR) as a biomarker for oxaliplatin use in colorectal cancer
Q57742300Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22
Q35104068Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
Q43054561Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations
Q84351352Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer
Q28658581Investigation of the atypical FBXW7 mutation spectrum in human tumours by conditional expression of a heterozygous propellor tip missense allele in the mouse intestines
Q42266358Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer
Q57320064Is EXO1 a colon cancer predisposition gene?
Q57092215KRAS Mutation Is Associated with Lung Metastasis in Patients with Curatively Resected Colorectal Cancer
Q24655120LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome
Q57191573Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
Q28267893Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Q29416989Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Q43074074Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome
Q24313629Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation
Q73591904Linkage analysis of candidate regions for coeliac disease genes
Q34020718Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
Q28300857Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
Q33540701Location in the large bowel influences the APC mutations observed in FAP adenomas
Q28255265Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
Q35352194Loss of Bcl-2 expression correlates with tumour recurrence in colorectal cancer
Q34720314Loss of expression and promoter methylation of SLIT2 are associated with sessile serrated adenoma formation.
Q37030899Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN.
Q34733395Loss of heterozygosity analysis: practically and conceptually flawed?
Q61644468Low penetrance breast cancer predisposition SNPs are site specific
Q77464963Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait
Q33906257Low-penetrance susceptibility variants in familial colorectal cancer
Q88197857MAJOR-GENE MODELS OF SEXUAL SELECTION UNDER CYCLICAL NATURAL SELECTION
Q35764426MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.
Q50120771MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.
Q56589268MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer
Q54745600MSI-low, a real phenomenon which varies in frequency among cancer types.
Q64019009Malignant phyllodes tumours show stromal overexpression of c-myc and c-kit
Q59759914Management and 5-year outcomes in 9938 women with screen-detected ductal carcinoma in situ: the UK Sloane Project
Q89882131Measuring single cell divisions in human tissues from multi-region sequencing data
Q35619996Mechanisms of inactivation of mismatch repair genes in human colorectal cancer cell lines: the predominant role of hMLH1.
Q37100729Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
Q30252873Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
Q91314341Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer
Q98772941Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer
Q29417081Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Q36333368Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
Q34988292Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility
Q29417032Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
Q35745033Methylation changes in the TFAP2E promoter region are associated with BRAF mutation and poorer overall & disease free survival in colorectal cancer.
Q34497352MicroRNA related polymorphisms and breast cancer risk
Q35363901Microsatellite instability and the clinicopathological features of sporadic colorectal cancer
Q36622463Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer
Q35836669Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer
Q28285094Mitochondrial tumour suppressors: a genetic and biochemical update
Q39713098Modelling the consequences of interactions between tumour cells
Q91023539Modifiable pathways for colorectal cancer: a mendelian randomisation analysis
Q57320094Modifier genes in humans: strategies for identification
Q35809903Molecular analysis of phyllodes tumors reveals distinct changes in the epithelial and stromal components
Q35594890Molecular characteristics of serrated adenomas of the colorectum
Q57078705Molecular classification and genetic pathways in hyperplastic polyposis syndrome
Q82679775Molecular genetic evidence that endometriosis is a precursor of ovarian cancer
Q40119519Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories
Q40087347Molecular testing for somatic mutations in common cancers: the views of UK oncologists
Q51887591Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate.
Q36610621Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas
Q33722799Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1
Q28212369Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
Q21144952Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
Q36897003Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Q37619454Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
Q73721869Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast
Q34555860Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome
Q63499786Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series
Q35747921Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis
Q91503301Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Q34756366Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Q43202093Mutations in Bcl10 are very rare in colorectal cancer
Q52182349Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Q28243075Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas
Q45345229Mutations in the SMAD4/DPC4 gene in juvenile polyposis
Q42801824Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia
Q40278413Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines
Q54494364Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice.
Q89125858Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies
Q64458449No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study
Q30374367No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Q37079859No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Q83202618Novel MLH1 duplication identified in Colombian families with Lynch syndrome
Q39006292Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study
Q54384796Nuclear beta-catenin expression and Wnt signalling: in defence of the dogma.
Q24685624O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions
Q73594059Optimising methods for determining RER status in colorectal cancers
Q46015488Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice.
Q28584533PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Q34184024PHLDA1 expression marks the putative epithelial stem cells and contributes to intestinal tumorigenesis.
Q35739446POLE mutations in families predisposed to cutaneous melanoma
Q112572520Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Q91072311Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer
Q98906952Pervasive chromosomal instability and karyotype order in tumour evolution
Q33680045Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Q33679883Peutz-Jeghers syndrome
Q43986380Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Q54588344Polyclonal origin of colonic adenomas in an XO/XY patient with FAP.
Q62583133Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Q34327377Polymorphisms and colorectal tumor risk
Q36066735Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
Q36915870Polymorphisms in inflammation pathway genes and endometrial cancer risk
Q35042479Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus
Q41128157Population genetics of tumours.
Q34994568Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial
Q36583004Prediction of breast cancer risk based on profiling with common genetic variants
Q102219893Prediction of relapse-free survival according to adjuvant chemotherapy and regulator of chromosome condensation 2 (RCC2) expression in colorectal cancer
Q43232475Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP.
Q37221493Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.
Q38560298Prioritizing rare variants with conditional likelihood ratios
Q38614073Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
Q35583987Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery
Q39052828Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging
Q47182054Prognostic markers for colorectal cancer; estimating ploidy and stroma
Q34994583Prognostic significance of POLE proofreading mutations in endometrial cancer.
Q39922552Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations
Q35791897Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
Q55508030Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Q53030526Putative cis-regulatory drivers in colorectal cancer.
Q38287490Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice
Q36009422RAD51B in Familial Breast Cancer
Q41058083RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer
Q36058262Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Q37765721Rare genetic variants and the risk of cancer
Q28606428Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis
Q73798495Reciprocity between membranous and nuclear expression of beta-catenin in colorectal tumours
Q36265886Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer
Q35247152Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
Q52526259Reduced expression of molecules of the cadherin/catenin complex in the transition from colorectal adenoma to carcinoma.
Q35688605Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
Q56436732Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Q57092286Refining Molecular Analysis in the Pathways of Colorectal Carcinogenesis
Q34378542Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.
Q47794811Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients
Q35422960Relationship of extreme chromosomal instability with long-term survival in a retrospective analysis of primary breast cancer
Q39187683Replication stress links structural and numerical cancer chromosomal instability
Q34543725Replication study of SNP associations for colorectal cancer in Hong Kong Chinese
Q26825747Replicative DNA polymerase mutations in cancer
Q85789296Reply to "The classification of intestinal polyposis"
Q91855319Reply to: "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient"
Q47137439Robust RNA-based in situ mutation detection delineates colorectal cancer subclonal evolution.
Q34201905SDH mutations in cancer
Q57461910SERUM- AND GLUCOCORTICOID-INDUCED KINASE SGK1 DIRECTLY PROMOTES THE DIFFERENTIATION OF COLORECTAL CANCER CELLS AND RESTRAINS METASTASIS
Q33933528SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway
Q34027111Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma
Q41983219Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome
Q53010655Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Q57337207Selection, the mutation rate and cancer: Ensuring that the tail does not wag the dog
Q21266604Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
Q41183905Severe polyposis in Apc(1322T) mice is associated with submaximal Wnt signalling and increased expression of the stem cell marker Lgr5.
Q91360697Shared Genetic Etiology of Obesity-Related Traits and Barrett's Esophagus/Adenocarcinoma: Insights from Genome-Wide Association Studies
Q36977534Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome
Q52336141Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Q38839775Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study
Q34503041Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas
Q46615738Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations
Q38602946Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas
Q30999822Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
Q35633533TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres.
Q36287080Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
Q28586748Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway
Q92462215Targeted next generation sequencing reveals a common genetic pathway for colorectal cancers with chromosomal instability and those with microsatellite and chromosome stability
Q50041848Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel.
Q71767501Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease
Q36021583The 8q24 rs6983267G variant is associated with increased thyroid cancer risk
Q37484741The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
Q51795143The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression.
Q49817640The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Q38331013The C-terminus of Apc does not influence intestinal adenoma development or progression
Q35597393The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population
Q21261429The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
Q102323911The Glasgow Microenvironment Score associates with prognosis and adjuvant chemotherapy response in colorectal cancer
Q36716116The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.
Q40930104The HLA system and the analysis of multifactorial genetic disease
Q45104999The Hunting of the Snark: Whither Genome-Wide Association Studies for Colorectal Cancer?
Q97527458The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
Q35622053The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.
Q47949845The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer
Q64019020The Wnt pathway, epithelial-stromal interactions, and malignant progression in phyllodes tumours
Q34094916The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.
Q73549450The androgen receptor exon 1 trinucleotide repeat does not act as a modifier of the age of presentation in breast cancer
Q51565310The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.
Q84059657The continuum model of selection in human tumors: general paradigm or niche product?
Q55025035The effects of mutational processes and selection on driver mutations across cancer types.
Q58238423The evolutionary landscape of colorectal tumorigenesis
Q71834684The frequency and mechanism of loss of heterozygosity on chromosome 11q in breast cancer
Q36602699The genetics of FAP and FAP-like syndromes
Q38786667The importance of p53 pathway genetics in inherited and somatic cancer genomes.
Q36512253The in vivo rate of somatic adenomatous polyposis coli mutation
Q35864053The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis
Q38604664The mini-driver model of polygenic cancer evolution
Q35854432The multiple colorectal adenoma phenotype and MYH, a base excision repair gene
Q34410886The mutation rate and cancer
Q90149797The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression
Q42597110The role of E-cadherin in low-grade ductal breast tumourigenesis
Q38418796The role of cell proliferation and crypt fission in adenoma aggressiveness: a comparison of ileoanal pouch and rectal adenomas in familial adenomatous polyposis
Q52588708The role of inflammation in subventricular zone cancer.
Q35594706The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.
Q33587605The stem cell marker CD133 associates with enhanced colony formation and cell motility in colorectal cancer
Q44463232The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis
Q28731755Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24
Q57092293Tissue, cell and stage specificity of (epi)mutations in cancers
Q55055759Translational study identifies XPF and MUS81 as predictive biomarkers for oxaliplatin-based peri-operative chemotherapy in patients with esophageal adenocarcinoma.
Q28511450Tumor burden and clonality in multiple intestinal neoplasia mouse/normal mouse aggregation chimeras
Q39563871Tumour recurrence is associated with Jass grouping but not with differences in E-cadherin expression in moderately differentiated Dukes' B colorectal cancers.
Q34131230Two hits revisited again
Q51793796Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients.
Q24657391Unregulated smooth-muscle myosin in human intestinal neoplasia
Q52810855Urgent improvements needed to diagnose and manage Lynch syndrome.
Q38475625Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria
Q36656389Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.
Q38974107Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review
Q35365222Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age.
Q71767498Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours
Q37367984Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
Q34114297Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk
Q34720547What can be learnt about disease progression in breast cancer dormancy from relapse data?
Q36988586What can we learn from the population incidence of cancer? Armitage and Doll revisited
Q34015467Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
Q28109367Whole-genome methylation analysis of benign and malignant colorectal tumours
Q33568623Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
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