• KOL
    • Colorectal Cancer
    • Ian P M Tomlinson
    • Ian P M Tomlinson: Influence Statistics

      Ian P M Tomlinson

      Ian P M Tomlinson

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      University of Oxford, Oxford, United Kingdom; | Institute of Cancer and Genomic Sciences, University of Birmingham, B15 2TT, Birmingham, UK | Edinburgh Cancer Research Centre, ...

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      Ian P M Tomlinson:Expert Impact

      Concepts for whichIan P M Tomlinsonhas direct influence:Colorectal cancer,Breast cancer,Cancer risk,Endometrial cancer,Colorectal cancers,Allele loss,Colorectal adenomas.

      Ian P M Tomlinson:KOL impact

      Concepts related to the work of other authors for whichfor which Ian P M Tomlinson has influence:Colorectal cancer,Gene expression,Microsatellite instability,Lynch syndrome,Stem cells,Dna repair.

      KOL Resume for Ian P M Tomlinson

      Year
      2022

      University of Oxford, Oxford, United Kingdom;

      2021

      Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

      IGMM, University of Edinburgh

      University of Oxford, Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, Oxford, UK

      2020

      Cancer Genetics and Evolution Laboratory, Edinburgh Cancer Research Centre, Edinburgh, UK

      2019

      Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Vincent Drive, Edgbaston, B15 2TT, Birmingham, UK

      Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.

      2018

      Genomic Medicine Theme, National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UK

      University of Oxford - Molecular and Population Genetics Laboratory

      2017

      National Institute for Health Research Biomedical Research Centre, Oxford, United Kingdom

      Oxford Centre for Cancer Gene Research, Wellcome Trust for Human genetics, University of Oxford

      Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, B15 2TT, Birmingham, UK

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      Sample of concepts for which Ian P M Tomlinson is among the top experts in the world.
      Concept World rank
      marker d19s886 #1
      somatic allelic imbalance #1
      fission adenomatous crypts #1
      treatmentinclusion #1
      predicted promoter elements #1
      sas msi #1
      peutzjeghers syndrome pjs #1
      d11s29 ncam #1
      predispose colorectal #1
      fap tumours patients #1
      female preference cline #1
      mendelian colorectal #1
      disease severity families #1
      driver mutations kras #1
      banayanzonana #1
      specific mutation dfs #1
      pjs candidate sites #1
      loss smad4 protein #1
      chromosomal instability microsatellite #1
      proofreading domains #1
      allelic loss frequency #1
      mutations afap patients #1
      replication errors loss #1
      nucleotyping patient cohorts #1
      pathogenesis123 #1
      ireland susceptibility alleles #1
      jewish denomination #1
      c39243925insa #1
      mutations myh #1
      cms1 msi tumors #1
      heterozygosity mutation #1
      mutation adenoma #1
      rs16969681 #1
      apc mutations codon #1
      hmps #1
      15q14q22 #1
      mutations smad4 gene #1
      jeghers patients #1
      msil microsatellite markers #1
      tca cycle tumorigenesis #1
      germline mbd4 deficiency #1
      character preference #1
      dfs cin #1
      fh mutation database #1
      classical adenomas #1
      1p33p35 #1
      loh polyps #1
      proteins adenomatous #1
      adenoma aggressiveness #1
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      Prominent publications by Ian P M Tomlinson

      KOL-Index: 18094

      Fifteen to twenty-five percent of sporadic colorectal carcinomas are replication error (RER) positive. Because the frequency of mutations in the mismatch repair genes (hMLH1 and hMSH2) is low in these tumors, we have investigated the role of mutational inactivation, methylation of the promoter region, and loss of heterozygosity (LOH) as a possible explanation for the mutator phenotype of RER+ colorectal cancer cell lines. Genomic DNA was extracted from a panel of 49 human colorectal ...

      Known for Cell Lines | Mismatch Repair Genes | Rer Tumors | Human Colorectal | Hmlh1 Loh
      KOL-Index: 17284

      OBJECTIVES: Microsatellite instability (MSI) is an established marker of good prognosis in colorectal cancer (CRC). Chromosomal instability (CIN) is strongly negatively associated with MSI and has been shown to be a marker of poor prognosis in a small number of studies. However, a substantial group of "double-negative" (MSI-/CIN-) CRCs exists. The prognosis of these patients is unclear. Furthermore, MSI and CIN are each associated with specific molecular changes, such as mutations in ...

      Known for Cin Msi | Microsatellite Instability | Colorectal Cancer | Kras Braf | Independent Predictors
      KOL-Index: 16966

      BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.

      METHODS: We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We ...

      Known for Cancer Risk | Association Bmi | Genetically Predicted | European Descent | Mendelian Randomization
      KOL-Index: 16260

      CONTEXT: Activation of the hypoxia-inducible transcription factors HIF-1 and HIF-2 and a HIF-independent defect in developmental apoptosis have been implicated in the pathogenesis of pheochromocytoma (PCC) associated with VHL, SDHB, and SDHD mutations.

      OBJECTIVE: Our objective was to compare protein (HIF-1alpha, EPAS1, SDHB, JunB, CCND1, CD34, CLU) and gene (VEGF, BNIP3) expression patterns in VHL and SDHB/D associated tumors.

      RESULTS: Overexpression of HIF-2 was relatively more common ...

      Known for Sdhb Vhl | Sdh Mutations | Target Genes | Hypoxiainducible Factor | Helix Transcription
      KOL-Index: 16031

      BACKGROUND: Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas. Tumors from affected persons displayed excess somatic transversions of a guanine-cytosine pair to a thymine-adenine pair (G:C-->T:A) in the APC gene.

      METHODS: We screened for germ-line MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC-mutation-negative probands with classic familial adenomatous polyposis ...

      Known for Multiple Colorectal Adenomas | Patients Polyposis | Mutations Myh | Recessive Inheritance | Female Genes
      KOL-Index: 15992

      BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.

      METHODS: We genotyped 10 rare mutations ...

      Known for Cancer Risk | Chek2 Atm | Evidence Association | Mutations Palb2 | Checkpoint Kinase
      KOL-Index: 15921

      Loss of chromosome 18q21 is well documented in colorectal cancer, and it has been suggested that this loss targets the DCC, DPC4/SMAD4, and SMAD2 genes. Recently, the importance of SMAD4, a downstream regulator in the TGF-beta signaling pathway, in colorectal cancer has been highlighted, although the frequency of SMAD4 mutations appears much lower than that of 18q21 loss. We set out to investigate allele loss, mutations, protein expression, and cytogenetics of chromosome 18 copy number ...

      Known for Smad4 Mutations | Colorectal Cancer | Microsatellite Instability | Tumor Cells | Human Pair
      KOL-Index: 14743

      BACKGROUND: Oesophageal adenocarcinoma represents one of the fastest rising cancers in high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal adenocarcinoma. However, only a few patients with Barrett's oesophagus develop adenocarcinoma, which complicates clinical management in the absence of valid predictors. Within an international consortium investigating the genetics of Barrett's oesophagus and oesophageal adenocarcinoma, we aimed to identify novel ...

      Known for Oesophageal Adenocarcinoma | Barretts Oesophagus | North America | × 10 | Genome Wide
      KOL-Index: 14040

      OBJECTIVE: To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ).

      DESIGN: Cohort-study set within recruitment to the GCaPPS trial (ISRCTN73338115).

      SETTING: North London AJ population.

      POPULATION OR SAMPLE: Ashkenazi Jews women/men >18 years, recruited through self-referral.

      METHODS: Ashkenazi Jews women/men underwent pre-test counselling for BRCA testing through recruitment clinics (clusters). Consenting individuals provided blood samples for BRCA ...

      Known for Brca Testing | Ashkenazi Jewish | Intention Uptake | Pretest Counselling | Female Genes
      KOL-Index: 14033

      Although APC mutations occur at a high frequency in colorectal cancers, few studies have performed a comprehensive analysis by screening the whole gene for mutations and assessing allelic loss. APC seems to act as a tumor-suppressor gene in a "nonclassical" fashion: data from familial adenomatous polyposis (FAP) show that the site of the germ-line mutation determines the type of "second hit" in FAP tumors, and simple protein inactivation is selected weakly, if at all. In this study, we ...

      Known for Apc Mutations | Colorectal Tumors | Allelic Loss | Beta Catenin | Familial Adenomatous Polyposis
      KOL-Index: 13909

      BACKGROUND: Population-based testing for BRCA1/2 mutations detects the high proportion of carriers not identified by cancer family history (FH)-based testing. We compared the cost-effectiveness of population-based BRCA testing with the standard FH-based approach in Ashkenazi Jewish (AJ) women.

      METHODS: A decision-analytic model was developed to compare lifetime costs and effects amongst AJ women in the UK of BRCA founder-mutation testing amongst: 1) all women in the population age 30 ...

      Known for Population Screening | Based Testing | Brca Mutations | Jewish Women | 30 Years
      KOL-Index: 13654

      The site of the ‘first hit’ in the APC tumour suppressor gene determines the type of the ‘second hit’, both in familial adenomatous polyposis (FAP) and sporadic colorectal tumours. Mutations near codon 1300 are associated with loss of heterozygosity (LOH) of the wild-type allele; other tumours tend to have two protein-truncating mutations. In this study, we have confirmed and refined the LOH-associated region in colorectal FAP: allelic loss in adenomatous polyps tended to occur when the ...

      Known for Somatic Mutation | Apc Locus | Loss Heterozygosity | Beta Catenin | Adenomatous Polyposis
      KOL-Index: 13619

      PURPOSE: Oncogene mutations contribute to colorectal cancer development. We searched for differences in oncogene mutation profiles between colorectal cancer metastases from different sites and evaluated these as markers for site of relapse.

      EXPERIMENTAL DESIGN: One hundred colorectal cancer metastases were screened for mutations in 19 oncogenes, and further 61 metastases and 87 matched primary cancers were analyzed for genes with identified mutations. Mutation prevalence was compared ...

      Known for Lung Metastasis | Kras Mutation | Oncogene Proteins | Colorectal Cancer | Liver Metastases
      KOL-Index: 13582

      Studies of adenomatous polyposis coli (APC) mutations in familial adenomatous polyposis (FAP) have focused on large bowel disease. It has been found that: 1) germline APC mutations around codon 1300 are associated with severe colorectal polyposis; 2) somatic APC mutations in colorectal tumors tend to cluster approximately between codons 1250 and 1450; and 3) patients with germline mutations close to codon 1300 tend to acquire somatic mutations (second hits) in their colorectal polyps by ...

      Known for Somatic Mutations | Upper Gastrointestinal | Adenomatous Polyposis | Female Genes | Germline Apc

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      University of Oxford, Oxford, United Kingdom; | Institute of Cancer and Genomic Sciences, University of Birmingham, B15 2TT, Birmingham, UK | Edinburgh Cancer Research Centre, IGMM, University of Edinburgh, Edinburgh, United Kingdom | Wellcome Trust

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