Challenges of SNP genotyping and genetic variation: its future role in diagnosis and treatment of cancer (Q36481104)

14 August 2017

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title

Challenges of SNP genotyping and genetic variation: its future role in diagnosis and treatment of cancer (English)

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14 August 2017

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2

Stephen J Chanock

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14 August 2017

Toralf Bernig

1

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14 August 2017

1 May 2006

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

14 August 2017

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14 August 2017

6

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14 August 2017

3

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14 August 2017

319-331

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Localization of the gene for familial adenomatous polyposis on chromosome 5.

14 August 2017

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The future of genetic studies of complex human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

On the allelic spectrum of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The allelic architecture of human disease genes: common disease-common variant... or not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Whole-genome patterns of common DNA variation in three human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Functional analysis of human promoter polymorphisms.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genomic variants in exons and introns: identifying the splicing spoilers

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Searching for genetic determinants in the new millennium

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The Sequence of the Human Genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

High-resolution haplotype structure in the human genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The structure of haplotype blocks in the human genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Patterns of linkage disequilibrium in the human genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A haplotype map of the human genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A New Statistical Method for Haplotype Reconstruction from Population Data

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Epidemiological methods for studying genes and environmental factors in complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A vision for the future of genomics research

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The role of haplotypes in candidate gene studies

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Haplotype variation and linkage disequilibrium in 313 human genes

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Linkage disequilibrium in humans: models and data

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Haplotype tagging single nucleotide polymorphisms and association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Complement factor H polymorphism and age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Complement factor H variant increases the risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Complement factor H polymorphism in age-related macular degeneration

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The portability of tagSNPs across populations: a worldwide survey

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Effect of population stratification on case-control association studies. II. False-positive rates and their limiting behavior as number of subpopulations increases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Effect of population stratification on case-control association studies. I. Elevation in false positive rates and comparison to confounding risk ratios (a simulation study).

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Candidate-gene approaches for studying complex genetic traits: practical considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The future of association studies: gene-based analysis and replication

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

A comprehensive review of genetic association studies

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Efficiency and power in genetic association studies

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

What makes a good case-control study? Design issues for complex traits such as endometriosis.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

False discoveries and models for gene discovery

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Assessing the probability that a positive report is false: an approach for molecular epidemiology studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Problems of reporting genetic associations with complex outcomes

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Rapid simulation of P values for product methods and multiple-testing adjustment in association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Score tests for association between traits and haplotypes when linkage phase is ambiguous

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

"Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Accounting for haplotype uncertainty in matched association studies: a comparison of simple and flexible techniques.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

GSTM1, GSTT1, and GSTP1 polymorphisms and risk of advanced colorectal adenoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Molecular epidemiology of sporadic breast cancer. The role of polymorphic genes involved in oestrogen biosynthesis and metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The search for low-penetrance cancer susceptibility alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

CYP1A1 T3801 C polymorphism and lung cancer: a pooled analysis of 2451 cases and 3358 controls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

21 January 2018

Inflammation and cancer

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Role of infiltrated leucocytes in tumour growth and spread

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The role of tumour-associated macrophages in tumour progression: implications for new anticancer therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

The HapMap project and its application to genetic studies of drug response

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Cancer pharmacogenomics: international trends

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

High incidence of secondary brain tumours after radiotherapy and antimetabolites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Intensification of mercaptopurine/methotrexate maintenance chemotherapy may increase the risk of relapse for some children with acute lymphoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genetic determinants influencing the response to injury, inflammation, and sepsis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Mannose-binding lectin and infection following allogeneic hemopoietic stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Lack of mannose-binding lectin-A enhances survival in a mouse model of acute septic peritonitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Shattuck lecture--medical and societal consequences of the Human Genome Project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genomic Priorities and Public Health

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Do we need genomic research for the prevention of common diseases with environmental causes?

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

High-throughput SNP genotyping on universal bead arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Gene-expression patterns in drug-resistant acute lymphoblastic leukemia cells and response to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Global gene expression as a function of germline genetic variation

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Polymorphism discovery in 51 chemotherapy pathway genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Genome scans and candidate gene approaches in the study of common diseases and variable drug responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Variations on a theme: cataloging human DNA sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Variation is the spice of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Haplotype tagging for the identification of common disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Evidence for substantial fine-scale variation in recombination rates across the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

NAT2 slow acetylation and bladder cancer risk: a meta-analysis of 22 case-control studies conducted in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Identification of the polymorphically expressed CYP2C19 and the wild-type CYP2C9-ILE359 allele as low-Km catalysts of cyclophosphamide and ifosfamide activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

MTHFR gene polymorphism and severe toxicity during adjuvant treatment of early breast cancer with cyclophosphamide, methotrexate, and fluorouracil (CMF)

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3' haplotypes could modify circulating levels of mannose-binding lectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.6.3.319

Lymphoid gene expression as a predictor of risk of secondary brain tumors

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.6.3.319

21 January 2018

Identifiers

DOI

10.1586/14737159.6.3.319

1 reference

14 August 2017

1 reference

PubMed ID

16706736