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List of works by Richard Houlston

A Comprehensive Analysis ofMNG1,TCO1,fPTC,PTEN,TSHR, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO1

article

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13 ⬇️

scientific article published on October 1, 2003

A Novel Genetic Variant in Long Non-coding RNA Gene NEXN-AS1 is Associated with Risk of Lung Cancer

scientific article published on 07 October 2016

A Practical Guide to Constructing and Using Tissue Microarrays ⬇️

scientific article published on 01 January 2011

A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma ⬇️

scientific article published on September 7, 2012

A cancer-associated aurora A mutant is mislocalized and misregulated due to loss of interaction with TPX2

scientific article

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors

scientific article published in November 1998

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

article

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays

scientific article

A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21

article

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

scientific article

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

scientific journal article

A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. ⬇️

scientific article published on 03 October 2016

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

scientific journal article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)

scientific journal article

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

article

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

article

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

scientific article

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.

scientific article

A high-density SNP genome-wide linkage search of 206 families identifies susceptibility loci for chronic lymphocytic leukemia

scientific article published on 8 August 2007

A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci

scientific article published on 2 August 2005

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

scientific article

A method for determining familial cancer risks in clinical practice

scientific article published on 01 August 1996

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

scientific article published on December 2006

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 20 May 2015

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

scientific article published on 01 October 2009

A novel approach to exploring potential interactions among single-nucleotide polymorphisms of inflammation genes in gliomagenesis: an exploratory case-only study

scientific article published on July 2011

A novel test for gene-ancestry interactions in genome-wide association data

scientific article

A prospective, blinded analysis of thymidylate synthase and p53 expression as prognostic markers in the adjuvant treatment of colorectal cancer

article

A retrospective observational study of the relationship between single nucleotide polymorphisms associated with the risk of developing colorectal cancer and survival ⬇️

scientific article

A robust method for detecting CHK2/RAD53 mutations in genomic DNA.

scientific article published in February 2002

A systematic review and meta-analysis of the relationship between chromosome 18q genotype, DCC status and colorectal cancer prognosis

scientific article

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

scientific article

ATM mutations are rare in familial chronic lymphocytic leukemia

scientific article

ATM polymorphisms as risk factors for prostate cancer development

scientific article published on August 2004

Abstract 2986: Meta-analysis of whole exome sequencing data reveals the mutational spectrum of testicular germ cell tumors

article

Abstract 407: Targeted Hi-C and integrative analyses reveal functionality of colorectal cancer risk loci

Abstract 4597: A novel variant in DNA repair gene GTF2H4 is associated with lung cancer risk: A reanalysis of GWAS datasets from the TRICL consortium

article

Abstract 889: An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for theXRCC4SNPs

article

Abstract 942: Imputation from The 1000 Genomes Project identifies rare large effect variants of BRCA2-K3326X and CHEK2-I157T as risk factors for lung cancer; a study from the TRICL consortium

article published in 2014

Abstract P3-08-04: Impact of CYP3A variation on estrone levels and breast cancer risk

Activating mutations and/or expression levels of tyrosine kinase receptors GRB7, RAS, and BRAF in testicular germ cell tumors

scientific article

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

scientific article

Allergy and glioma risk: test of association by genotype.

scientific article published on 25 May 2010

An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs

scientific article

An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics

scientific article published on 14 October 2020

Analysis of 153 115 patients with hematological malignancies refines the spectrum of familial risk

scientific article published on 08 August 2019

Analysis of DNA repair gene polymorphisms and survival in low-grade and anaplastic gliomas.

scientific article

Analysis of familial male breast cancer for germline mutations in CHEK2

article

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

scientific article

Analysis of the CTLA4 gene in Swedish coeliac disease patients

article

Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia.

scientific article

Apolipoprotein (apo) E genotypes by polymerase chain reaction and allele-specific oligonucleotide probes: no detectable linkage disequilibrium between apo E and apo CII

scientific article published on 01 November 1989

Approaching a Scientific Consensus on the Association between Allergies and Glioma Risk: A Report from the Glioma International Case-Control Study

scientific article published on February 2016

Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery

scientific article published on 27 March 2014

Architecture of inherited susceptibility to common cancer

scientific article published on May 2010

Aspirin, NSAIDs, and Glioma Risk: Original Data from the Glioma International Case-Control Study and a Meta-analysis

scientific article published on 27 November 2018

Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach.

scientific article published on 16 June 2017

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 2020

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis

scientific article published on 25 March 2008

Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies

scientific article published on 16 November 2012

Association between hormonal genetic polymorphisms and early-onset prostate cancer

scientific article published in January 2005

Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck

scientific article published on 19 April 2005

Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial

scientific article

Association between the GCG polymorphism of the selenium dependent GPX1 gene and the risk of young onset prostate cancer

scientific article

Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis

scientific article published on 11 March 2008

Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study

scientific article

Association of genetic variants at 8q24 with breast cancer risk

scientific article

Association studies using familial cases: an efficient strategy for identifying low-penetrance disease alleles.

scientific article

Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

scientific article published in Nature Communications

BRAF mutations are detectable in conjunctival but not uveal melanomas

scientific article published on 01 December 2004

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

scientific article published on 14 February 2012

Biology and clinical development of vascular endothelial growth factor-targeted therapy in renal cell carcinoma

scientific article

Birth order pattern in the inheritance of chronic lymphocytic leukaemia and related lymphoproliferative disease

CASP8 D302H and meningioma risk: An analysis of five case-control series

CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers

scientific article published in May 2001

CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours

scientific article published on December 2002

CHEK2*1100delC and risk of chronic lymphocytic leukemia

CLL family ‘Pedigree 14’ revisited: 1947–2004

scientific article published on 01 June 2005

COGENT (COlorectal cancer GENeTics) revisited

scientific article published on March 2012

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

scientific article

CYP1A1 polymorphisms and lung cancer risk: a meta-analysis

scientific article published on 01 March 2000

CYP3A variation, premenopausal estrone levels, and breast cancer risk

scientific article published on 3 April 2012

CanVar: A resource for sharing germline variation in cancer patients

scientific article

Cancer genetics, precision prevention and a call to action

scientific article published on 29 August 2018

Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.

scientific article

Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis

scientific article published on 29 May 2010

Candidate gene association studies and risk of chronic lymphocytic leukemia: a systematic review and meta-analysis

scientific article published on 24 June 2013

Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci

scientific article

Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis ⬇️

scientific article

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci

scientific article published in August 1998

Case-control study of familial lung cancer risks in UK women

article

Case-control, kin-cohort and meta-analyses provide no support for STK15 F31I as a low penetrance colorectal cancer allele.

scientific article published on 26 September 2006

Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene

scientific article

Causation of chronic lymphocytic leukemia--insights from familial disease

scientific article

Childhood acute lymphoblastic leukemia-associated risk-loci IKZF1, ARID5B and CEBPE and risk of pediatric non-Hodgkin lymphoma: a report from the Berlin-Frankfurt-Münster Study Group

scientific article published on 13 August 2014

Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis

scientific article published in July 2002

Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk

scientific article (publication date: 29 April 2011)

Chromosome 7p11.2 (EGFR) variation influences glioma risk

scientific journal article

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

scientific article published on 25 September 2008

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

scientific article published on 20 July 2009

Clonal lymphocytes in persons without known chronic lymphocytic leukemia (CLL): implications of recent findings in family members of CLL patients

scientific article published in July 2004

Co-morbidity between early-onset leukemia and type 1 diabetes--suggestive of a shared viral etiology?

scientific article

Collateral damage: the impact on cancer outcomes of the COVID-19 pandemic

scientific article published on 25 April 2020

Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom

article

Colorectal cancer risk in monoallelic carriers of MYH variants

scientific article published in October 2006

Common 5p15.33 and 6p21.33 variants influence lung cancer risk

scientific article

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

scientific article published on 16 December 2007

Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk

scientific article published on 9 May 2011

Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia

scientific article published on 29 March 2012

Common genetic variation contributes significantly to the risk of developing chronic lymphocytic leukemia

scientific article published on 16 August 2012

Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms

scientific article published on 26 September 2014

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

scientific article published on 10 January 2010

Common variation at 10p12.31 near MLLT10 influences meningioma risk

scientific article

Common variation at 12q24.13 (OAS3) influences chronic lymphocytic leukemia risk.

scientific article published on 3 November 2014

Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer

scientific article

Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia

scientific article

Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK.

scientific article published on 5 March 2009

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

scientific article

Comprehensive Analysis of DNA Repair Gene Variants and Risk of Meningioma

article

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers

scientific article published on October 2001

Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer

scientific article (publication date: 20 April 2004)

Comprehensive analysis of the role of DNA repair gene polymorphisms on risk of glioma.

scientific article

Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition

scientific article

Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk

scientific article published on 07 December 2011

Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer

article

Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome

scientific article published on July 1, 1992

Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report

scientific article published on 6 November 2017

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Copy number evolution and its relationship with patient outcome-an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial

scientific article published on 01 December 2020

Correlation in ages at death from familial ovarian cancer among sisters

scientific article published on November 1, 1992

Correspondence: SEMA4A variation and risk of colorectal cancer

scientific article

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

scholarly article published in European Urology

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility

Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer

scientific article

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

Cytochrome P450 Allele CYP3A7*1C Associates with Adverse Outcomes in Chronic Lymphocytic Leukemia, Breast, and Lung Cancer

scientific article published on 10 March 2016

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

scientific article

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

scientific article

DNA-repair gene variants are associated with glioblastoma survival

scientific article published on 21 October 2011

Dairy products, polymorphisms in the vitamin D receptor gene and colorectal adenoma recurrence

scientific article published in August 2008

David N. Cooper (ed) The molecular genetics of lung cancer (2005). Springer, ISBN 3-540-22985-X, hardcover, €106.99

article

Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls

scientific article

Deciphering the 8q24.21 association for glioma

scientific article published on 11 February 2013

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

scientific article published on 30 July 2013

Deciphering the genetics of hereditary non-syndromic colorectal cancer

scientific article published on 16 July 2008

Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study

scientific article

Description of selected characteristics of familial glioma patients – Results from the Gliogene Consortium ⬇️

scientific article published on January 4, 2013

Detection of apolipoprotein E polymorphisms using PCR/ASO probes and Southern transfer: application for routine use

scientific article published on 01 August 1990

Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia

scientific article

Diagnostic criteria for monoclonal B-cell lymphocytosis

scientific article

Distinct Genetic and Epigenetic Changes in Medullary Breast Cancer

scientific article published on 01 July 2003

Dominant genes for colorectal cancer are not rare

scientific article published on 01 May 1992

Dominantly inherited cutaneous small-vessel lymphocytic vasculitis maps to chromosome 6q26-q27.

scientific article published on 28 October 2005

Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study ⬇️

scientific article published on 20 July 2020

Eight novel loci implicate shared genetic etiology in multiple myeloma, AL amyloidosis, and monoclonal gammopathy of unknown significance

scientific article published on 06 November 2019

Elevated platelet count appears to be causally associated with increased risk of lung cancer: A Mendelian randomization analysis

scientific article published on 30 January 2019

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

scientific article published on 20 October 2009

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 3 August 2015

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition

scientific article

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

scientific article

Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition

scientific article published in August 2006

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan

article

Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.

scientific article

Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom

article

Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma

scientific article published on 11 May 2011

Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome

scientific article published on February 2005

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

scientific article published on April 2006

Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors

scientific article published on January 2007

False-negative-rate based approach selecting top single-nucleotide polymorphisms in the first stage of a two-stage genome-wide association study ⬇️

scientific article published on January 1, 2011

Familial Cancer Associated with a Polymorphism inARLTS1

scientific article published on 01 March 2006

Familial Chronic Lymphocytic Leukemia

scientific article published on 01 April 2006

Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer

scientific article published on 9 September 2008

Familial chronic lymphocytic leukaemia: a survey and review of published studies

scientific article

Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer

scientific article

Familial risks of acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms

scientific article published on 30 August 2018

Family history and risk of breast cancer ⬇️

scientific article published on March 1, 1992

Fine-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

scientific article

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.

scientific article published in February 2010

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

Folate Metabolism Polymorphisms Influence Risk of Colorectal Adenoma Recurrence

scientific article published on 01 September 2006

Folate and colorectal cancer prevention.

scientific article published on 16 December 2008

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

scientific article

From Linkage to Genes: Positional Cloning

article

Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma

scientific article published in May 2008

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

scientific article

Further observations on the relationship between the FGFR4 Gly388Arg polymorphism and lung cancer prognosis

scientific article published on 22 May 2007

GLIOGENE an International Consortium to Understand Familial Glioma

scientific article published on September 2007

GPC5 rs2352028 variant and risk of lung cancer in never smokers

scientific article published in August 2010

Gene for Arrhythmogenic Right Ventricular Cardiomyopathy With Diffuse Nonepidermolytic Palmoplantar Keratoderma and Woolly Hair (Naxos Disease) Maps to 17q21 ⬇️

scientific article published on May 26, 1998

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

scientific article

Generation of artificial FASTQ files to evaluate the performance of next-generation sequencing pipelines

scientific article

Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.

scientific article published on 10 August 2016

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

scientific article published on September 2017

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

scientific article published on 7 August 2017

Genetic advances in glioma: susceptibility genes and networks

scientific article

Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2.

scientific article

Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study

scientific article

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing

scientific article

Genetic epidemiology of differences in low-density lipoprotein (LDL) cholesterol concentration: possible involvement of variation at the apolipoprotein B gene locus in LDL kinetics

scientific article

Genetic factors influencing the risk of multiple myeloma bone disease ⬇️

scientific article

Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development

Genetic predisposition for multiple myeloma

scientific article published on 08 January 2020

Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism

scientific article published on 06 July 2018

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic predisposition to mosaic Y chromosome loss in blood

scientific article published on 20 November 2019

Genetic prognostic markers in colorectal cancer ⬇️

scientific article published on December 1, 1997

Genetic risk profiles identify different molecular etiologies for glioma

scientific article

Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men

scientific article

Genetic variants of PTPN2 are associated with lung cancer risk: a re-analysis of eight GWASs in the TRICL-ILCCO consortium

scientific article

Genetic variants of UGT1A6 influence risk of colorectal adenoma recurrence

scientific article (publication date: November 2006)

Genetic variation and risk of chronic lymphocytic leukaemia

scientific article published on 15 September 2010

Genetic variation in CXCR4 and risk of chronic lymphocytic leukemia

scientific article

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer

article

Genome-Wide High-Density SNP Linkage Search for Glioma Susceptibility Loci: Results from the Gliogene Consortium ⬇️

scientific article published on October 28, 2011

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

scientific article published in April 2003

Genome-wide association analysis identifies a meningioma risk locus at 11p15.5

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

scientific article published on 06 February 2017

Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci

scientific article (publication date: 23 January 2017)

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

scientific article published on 30 March 2008

Genome-wide association studies for detecting cancer susceptibility

scientific article published on 18 January 2011

Genome-wide association studies in glioma.

scientific article published on 30 January 2018

Genome-wide association studies of cancer: current insights and future perspectives

scientific article published on 13 October 2017

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

scientific article

Genome-wide association study identifies five new breast cancer susceptibility loci

scientific article

Genome-wide association study identifies five susceptibility loci for glioma

scientific article (publication date: August 2009)

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

scientific article

Genome-wide association study identifies multiple susceptibility loci for glioma ⬇️

scientific article

Genome-wide association study identifies multiple susceptibility loci for multiple myeloma ⬇️

scientific article

Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia ⬇️

scientific article published on 9 April 2018

Genome-wide association study identifies variation at 6q25.1 associated with survival in multiple myeloma ⬇️

scientific article published on 8 January 2016

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

scientific article published on 07 September 2018

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

scientific article published in December 2017

Genome-wide association study of clinical parameters in immunoglobulin light chain amyloidosis in three patient cohorts.

scientific article published on 4 July 2017

Genome-wide association study of glioma and meta-analysis

journal article published in 2012

Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

scientific article published on 27 March 2017

Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.

scientific article published on 27 December 2016

Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma

scientific article published on 08 February 2019

Genome-wide association study on differentiated thyroid cancer

scientific journal article

Genome-wide homozygosity signature and risk of Hodgkin lymphoma

scientific article

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

Genome-wide interaction and pathway-based identification of key regulators in multiple myeloma

scientific article published on 04 March 2019

Genome-wide interaction study of smoking behavior and non-small cell lung cancer risk in Caucasian population

scientific article published on 20 October 2017

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

scientific article

Genomic landscape of platinum resistant and sensitive testicular cancers

scientific article published on 04 May 2020

Genotyping Methodologies

scientific article published on 01 January 2001

Genotyping methodologies

scientific article published on 01 January 2000

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

article

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas ⬇️

scientific article

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

scientific article

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population

scientific article

Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer

scientific article published in January 2003

Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

scientific article

Germline mutations in shelterin complex genes are associated with familial glioma

scientific article

Germline mutations inRAD51,RAD51AP1,RAD51B,RAD51C,RAD51D,RAD52andRAD54Ldo not contribute to familial chronic lymphocytic leukemia

Germline polymorphisms and survival of lung adenocarcinoma patients: a genome-wide study in two European patient series.

scientific article published on 19 September 2014

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

scientific article

Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study

scientific article

Germline variants at SOHLH2 influence multiple myeloma risk

scientific article published on 19 April 2021

Gut microflora associated characteristics in first-degree relatives of children with celiac disease

scientific article published on October 2007

HLA associations in classical Hodgkin lymphoma: EBV status matters.

scientific article

Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy

scientific article

Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.

scientific article

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

article

IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma

scientific article published on 5 October 2009

Identification d’allèles de susceptibilité au cancer colorectal à faible pénétrance

Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor ⬇️

scientific article published on 12 June 2017

Identification of four new susceptibility loci for testicular germ cell tumour ⬇️

scientific article published on 27 October 2015

Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk

scientific article published on 25 November 2019

Identification of low penetrance alleles for lung cancer: the GEnetic Lung CAncer Predisposition Study (GELCAPS).

scientific article

Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia

scientific article

Identification of miRSNPs associated with the risk of multiple myeloma.

scientific article

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

Identification of novel Tapasin polymorphisms and linkage disequilibrium to MHC class I alleles

scientific article

Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C

scientific article published on 01 January 2019

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

scientific article

Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk

scientific article published in Nature Communications

Impact of atopy on risk of glioma: a Mendelian randomisation study

scientific article published on 15 March 2018

Impact of mitochondrial DNA mutations in multiple myeloma

scientific article published on 01 May 2020

Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma ⬇️

scientific article published on 24 July 2015

Implications of Familial Colorectal Cancer Risk Profiles and Microsatellite Instability Status

scientific article published on 23 March 2009

Implications of polygenic risk for personalised colorectal cancer screening

scientific article published on 16 November 2015

In Reply:

Increased sex concordance of sibling pairs with chronic lymphocytic leukemia

Increasing evidence that germline mutations inCHEK2 do not cause Li-Fraumeni syndrome

article

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

scientific article

Influence of obesity-related risk factors in the aetiology of glioma

scientific article published on 13 March 2018

Inherited genetic susceptibility to monoclonal B-cell lymphocytosis

scientific article

Inherited genetic susceptibility to monoclonal gammopathy of unknown significance

scientific article published on 21 January 2014

Inherited genetic susceptibility to multiple myeloma

scientific article

Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers

scientific article published on 01 January 2005

Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion

scientific article published in October 2002

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

scientific article published on 30 May 2008

Inherited susceptibility to CLL.

scientific article published on January 2013

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.

scientific article

Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma

scientific article

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia

scientific article published on 12 July 2017

Inherited variation in immune genes and pathways and glioblastoma risk

scientific article

Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma

scientific article published on 12 June 2012

Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

scientific article published on 09 August 2019

Insight into the pathogenesis of chronic lymphocytic leukemia (CLL) through analysis of IgVH gene usage and mutation status in familial CLL

article

Instability of CAG-trinucleotide Repeats in Chronic Lymphocytic Leukemia

article published in 2002

Inter-relationship between microsatellite instability, thymidylate synthase expression, and p53 status in colorectal cancer: implications for chemoresistance

scientific article published on 5 June 2006

Interaction between 5 genetic variants and allergy in glioma risk

scientific article published on 12 May 2010

International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways

scientific article

Interobserver agreement in grading of colorectal cancers-findings from a nationwide web-based survey of histopathologists

scientific article

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer

scientific article published on March 2012

Is EXO1 a colon cancer predisposition gene?

article

Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

scientific article

Lack of a relationship between the common 18q24 variant rs12953717 and risk of chronic lymphocytic leukemia

Lack of an Association between the TGFBR1*6A Variant and Colorectal Cancer Risk

Lack of evidence that p53 Arg72Pro influences lung cancer prognosis: an analysis of survival in 619 female patients

scientific article

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

scientific article published on 12 June 2017

Leveraging Human Genetics to Guide Cancer Drug Development

scientific article published on 01 December 2018

Leveraging genome and phenome-wide association studies to investigate genetic risk of acute lymphoblastic leukemia

scientific article published on 28 May 2020

Linkage and the Transmission Disequilibrium Test in Complex Traits: Celiac Disease as a Case Study

article

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

scientific article published on 01 March 2000

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q ⬇️

scientific article published on April 1, 1998

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

scientific article

Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia

scientific article

Low expression of hexokinase-2 is associated with false-negative FDG-positron emission tomography in multiple myeloma

scientific article published on 21 April 2017

Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222.

scientific article published on 9 April 2013

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

Low-penetrance susceptibility to hematological malignancy

scientific article published on 08 April 2010

Low-penetrance susceptibility variants in familial colorectal cancer

scientific article

MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia

MLH1-93G > A is a risk factor for MSI colorectal cancer

scientific article published on 11 May 2011

MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations

article

MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer

scientific article published on 9 March 2007

MTHFR polymorphisms and risk of chronic lymphocytic leukemia.

scientific article published in December 2004

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

scientific article published in February 2005

Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases

scientific article

Medullary and non-medullary thyroid cancer in a family

scientific article published on 01 January 2004

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Mendelian randomisation study of the relationship between vitamin D and risk of glioma

scientific article

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

scientific article

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Meta-analysis of genome-wide linkage studies in celiac disease

scientific article published on 22 July 2009

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

scientific article

Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3

scientific article published on November 2005

Microsatellite instability indicative of defects in the major mismatch repair genes is rare in patients with B-cell chronic lymphocytic leukemia: Evaluation with disease stage and family history

article

Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors.

scientific article published on 04 August 2016

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

scientific article published on 24 October 2019

Modifier genes in humans: strategies for identification

article

Molecular advances in medullary thyroid cancer diagnostics

scientific article

Monoclonal B-cell lymphocytosis (MBL) in CLL families: substantial increase in relative risk for young adults

scientific article published on 01 April 2006

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Multiple HLA class I and II associations in classical Hodgkin lymphoma and EBV status defined subgroups

scientific article published on 14 September 2011

Multiple Hodgkin lymphoma-associated loci within the HLA region at chromosome 6p21.3

scientific article published on 19 May 2011

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.

scientific article

Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression

scientific article published on 24 November 2016

Mutational analysis of CD28 in coeliac disease.

scientific article

Mutational processes contributing to the development of multiple myeloma

scientific article published on 06 August 2019

Mutations in Bcl10 are very rare in colorectal cancer

scientific article published in July 1999

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

scientific article published in November 1998

Mutations in PTF1A cause pancreatic and cerebellar agenesis

scientific article

MyelomA Genetics International Consortium

scientific article published on 03 January 2012

National study of colorectal cancer genetics

scientific article published on 25 September 2007

Neutral tumor evolution in myeloma is associated with poor prognosis. ⬇️

scientific article published on 21 August 2017

New insights into susceptibility to glioma

scientific article published on March 2010

No breast cancer association for transforming growth factor-beta pathway colorectal cancer single nucleotide polymorphisms

scientific article published on June 2009

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas

article

Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk

scientific article

Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study

scientific article published on 24 January 2011

Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer

scientific article published on 26 October 2017

Ornithine decarboxylase G316A genotype is prognostic for colorectal adenoma recurrence and predicts efficacy of aspirin chemoprevention

scientific article published in April 2008

Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

article published in 2003

P-087 Search for susceptibility alleles to lung cancer by screeningfamilial cases for constitutional mutations in the Xeroderma Pigmentosum Complementation genes

article

P-297 A case-control study of familial lung cancer risks in UK women

Pathway analysis of renal cell carcinoma genome-wide association studies identifies novel associations

scientific article published on 30 July 2020

Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus

scientific article

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

Plasminogen activator inhibitor variants PAI-1 A15T and PAI-2 S413C influence lung cancer prognosis

scientific article published on 31 December 2008

Pleiotropic associations of risk variants identified for other cancers with lung cancer risk: the PAGE and TRICL consortia

scientific article

Polygenic susceptibility to testicular cancer: implications for personalised health care

scientific article published on 13 October 2015

Polygenic susceptibility to testicular cancer: implications for personalised health care

scientific article published on 26 May 2016

Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies

scientific article

Polymorphisms in PTGS1, PTGS2 and IL-10 do not influence colorectal adenoma recurrence in the context of a randomized aspirin intervention trial

scientific article (publication date: November 2007)

Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk

scientific article

Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival

scientific article

Polymorphisms of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls

scientific article published on 10 February 2016

Prediction of genetic risks from segregation analyses of morbid risks

scientific article published on 01 January 1994

Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients. ⬇️

scientific article published on 06 June 2017

Prioritizing rare variants with conditional likelihood ratios

scientific article published on 03 February 2015

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

Prognostic significance of folate metabolism polymorphisms for lung cancer.

scientific article published on 29 May 2007

Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer

scientific article published in October 2018

Protein-altering germline mutations implicate novel genes related to lung cancer development

scientific article published on 11 May 2020

Publisher Correction: Cancer genetics, precision prevention and a call to action

scientific article published on 01 January 2019

Publisher Correction: Mendelian randomisation study of the relationship between vitamin D and risk of glioma

scientific article published on 23 May 2019

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Pulmonary masses presenting 11 years after abdominal surgery

scientific article published in May 2004

Putative cis-regulatory drivers in colorectal cancer

scientific article published on 23 July 2014

Quantifying and mitigating the impact of the COVID-19 pandemic on outcomes in colorectal cancer

scientific article published on 05 May 2020

Quantifying the heritability of glioma using genome-wide complex trait analysis

scientific article

Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches

scientific article

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. ⬇️

scientific article

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility ⬇️

scientific article published on 20 December 2016

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia

scientific article

Re: MLH1 93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer

scientific article published on 25 September 2007

Re: Reporting Recommendations for Tumor Marker Prognostic Studies (REMARK)

scientific article published on 01 December 2005

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

scientific article

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

scientific article

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

scientific article published on 10 November 2011

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients

scientific article published on 31 October 2011

Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia

scientific article

Relationship between glutathione S-transferase M1, P1 and T1 polymorphisms and early onset prostate cancer

scientific article published in June 2001

Relationship between glutathione S-transferase M1, T1, and P1 polymorphisms and chronic lymphocytic leukemia

scientific article

Relationship between thymidylate synthase (TS) genotype and TS expression: a tissue microarray analysis of colorectal cancers

scientific article published in April 2005

Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History

scientific article published on 13 March 2017

Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations

scientific article

Risk of developing chronic lymphocytic leukemia is influenced by HLA-A class I variation

scientific article published on 02 July 2012

Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene

scientific article

Risk of ovarian cancer and genetic relationship to other cancers in families

scientific article published on 01 March 1993

Risk of second primary cancer following myeloid neoplasia and risk of myeloid neoplasia as second primary cancer: a nationwide, observational follow up study in Sweden

scientific article published on 01 August 2018

Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers

scientific article

Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population

scientific article

SNPLINK: multipoint linkage analysis of densely distributed SNP data incorporating automated linkage disequilibrium removal

scientific article

STK11 status and intussusception risk in Peutz-Jeghers syndrome

scientific article published in August 2006

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis

scientific article

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

scientific article published on September 1999

Screening and genetic counselling for relatives of patients with breast cancer in a family cancer clinic ⬇️

scientific article published on October 1, 1992

Search for inherited susceptibility to radiation-associated meningioma by genomewide SNP linkage disequilibrium mapping

scientific article published on March 2011

Search 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

scientific article published on 25 September 2006

Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis ⬇️

scientific article

Search for rare protein altering variants influencing susceptibility to multiple myeloma

scientific article

Searching for the missing heritability of complex diseases

Second cancer risk following Hodgkin lymphoma

scientific article published on 14 September 2017

Segregation analysis of colorectal cancer in Northern Ireland

scientific article published on 01 January 1995

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

scientific article

Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

scientific article published on 9 May 2018

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Sub-clonal copy number is associated with prognosis in multiple myeloma

scientific article published on 29 October 2018

Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation

scientific article

Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk - a re-analysis of eight GWASs

scientific article (publication date: 15 November 2016)

Systematic review of microsatellite instability and colorectal cancer prognosis

scientific article

Systematic review of the relationship between family history and lung cancer risk.

scientific article

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

scientific article

TCF12 is mutated in anaplastic oligodendroglioma

scientific article published on 12 June 2015

TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations

scientific article

Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium

scientific article

Telomere structure and maintenance gene variants and risk of five cancer types

scientific article published on 15 December 2016

Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families

article

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

scientific article published on 12 December 2011

The 7p15.3 (rs4487645) association for multiple myeloma shows strong allele-specific regulation of the MYC-interacting gene CDCA7L in malignant plasma cells

scientific article published on 5 December 2014

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A ⬇️

scientific article

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

scientific article published on May 2005

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.

scientific article published in October 2009

The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium

scientific article

The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia.

scientific article published in June 2004

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

scientific article

The TERT variant rs2736100 is associated with colorectal cancer risk

scientific article

The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung

scientific article published on 22 May 2009

The association of rs1051730 genotype on adherence to and consumption of prescribed nicotine replacement therapy dose during a smoking cessation attempt

scientific article published on 10 April 2015

The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers--implications for oncogenetics practice

scientific article published on 14 May 2010

The challenges of genome analysis in the health care setting

scientific article

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

scientific article

The common D302H variant of CASP8 is associated with risk of glioma.

scientific article

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

scientific article published on 28 June 2009

The future of association studies of common cancers

scientific article published on 06 February 2003

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

scientific article published on 03 January 2019

The influence of pregnancy on the development of autoimmunity in chronic lymphocytic leukemia

scientific article published in August 2006

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

scientific article published on 14 March 2012

The molecular basis of familial chronic lymphocytic leukemia ⬇️

scientific article published on May 2009

The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression

scientific article published on 14 February 2017

The phenotype of Floating-Harbor syndrome in 10 patients.

scientific article

The predicted impact of coding single nucleotide polymorphisms database

scientific article

The search for low-penetrance cancer susceptibility alleles

scientific article published in August 2004

The silent mutational landscape of infant MLL-AF4 pro-B acute lymphoblastic leukemia.

scientific article published on 26 July 2013

The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression

scientific article published on 30 March 2006

Thymidylate synthase expression and prognosis in colorectal cancer: a systematic review and meta-analysis

scientific article published on February 2004

Thymidylate synthase polymorphisms, folate and B-vitamin intake, and risk of colorectal adenoma.

scientific article published on 30 October 2007

Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

scientific article published on 01 February 2019

Transverse limb deficiency, facial clefting and hypoxic renal damage: an association with treatment of maternal hypertension?

scientific article

Types of second primary cancers influence survival in chronic lymphocytic and hairy cell leukemia patients

scientific article published on 26 March 2019

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes

scientific article published on 29 June 2016

Unregulated smooth-muscle myosin in human intestinal neoplasia

scientific article

Variant IRF4/MUM1 associates with CD38 status and treatment-free survival in chronic lymphocytic leukaemia.

scientific article published on 21 January 2010

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia

scientific article published on 30 March 2006

Variants in the GH-IGF axis confer susceptibility to lung cancer

scientific article

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Variation at 7p12.2 and 10q21.2 influences childhood acute lymphoblastic leukemia risk in the Thai population and may contribute to racial differences in leukemia incidence

scientific article published on 01 October 2010

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

scientific article

Variation in TP63 is associated with lung adenocarcinoma in the UK population

scientific article published on 24 May 2011

Variation in the apolipoprotein B gene and development of type 2 diabetes mellitus

scientific article published on 01 March 1991

Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood

scientific article

Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk.

scientific article published on 10 June 2010

What are genome-wide association studies telling us about B-cell tumor development? ⬇️

scientific article published on September 1, 2010

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

scientific article

rs2072135, a low-penetrance variant for chronic lymphocytic leukaemia?

scientific article published on 14 May 2013

visPIG--a web tool for producing multi-region, multi-track, multi-scale plots of genetic data.

scientific article

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