Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer (Q28943461)

48

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Patrick Sulem

18

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Inger Njølstad

41

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Vladimír Bencko

34

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Valerie Gaborieau

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David Zaridze

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Paul Brennan

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Mark Lathrop

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Gudmar Thorleifsson

17

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Kári Stefánsson

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Thorunn Rafnar

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Nilanjan Chatterjee

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Dimitris Trichopoulos

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Vladimír Janout

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Lenka Foretová

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Peter Rudnai

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Eleonóra Fabiánová

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Dana Mates

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Anne Tjønneland

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Elio Riboli

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Jolanta Lissowska

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Rudolf Kaaks

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Demetrius Albanes

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Elisabete Weiderpass

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Marina Laplana

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Marc Henrion

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Maxime P Vallée

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Ben Kinnersley

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Frank Skorpen

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Peter Broderick

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Angela Risch

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Simone Benhamou

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Antonio Agudo

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Jian Gu

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Geoffrey Liu

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Kay-Tee Khaw

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14 March 2017

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14 March 2017

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14 March 2017

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14 March 2017

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4

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14 March 2017

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14 March 2017

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7

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14 March 2017

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14 March 2017

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14 March 2017

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14 March 2017

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14 March 2017

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14 March 2017

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Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia

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language of work or name

English

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publication date

1 July 2014

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14 March 2017

1 reference

14 March 2017

46

1 reference

14 March 2017

736–741

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14 March 2017

7

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14 March 2017

1 reference

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Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing

16 March 2017

1 reference

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Comprehensive genomic characterization of squamous cell lung cancers

16 March 2017

1 reference

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A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese

16 March 2017

1 reference

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Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008

16 March 2017

1 reference

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MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

16 March 2017

1 reference

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

16 March 2017

1 reference

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

16 March 2017

1 reference

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A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

16 March 2017

1 reference

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Genetic structure of Europeans: a view from the North-East

16 March 2017

1 reference

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Lung cancer susceptibility locus at 5p15.33

16 March 2017

1 reference

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

16 March 2017

1 reference

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Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1

16 March 2017

1 reference

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The checkpoint kinases Chk1 and Chk2 regulate the functional associations between hBRCA2 and Rad51 in response to DNA damage

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

PLINK: a tool set for whole-genome association and population-based linkage analyses

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Measuring inconsistency in meta-analyses

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

The structure of haplotype blocks in the human genome

16 March 2017

1 reference

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The American Cancer Society Cancer Prevention Study II Nutrition Cohort: rationale, study design, and baseline characteristics

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

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

7 April 2017

1 reference

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Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

7 April 2017

1 reference

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Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

7 April 2017

1 reference

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Genotype imputation for genome-wide association studies

7 April 2017

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Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

7 April 2017

1 reference

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SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

7 April 2017

1 reference

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Population structure, differential bias and genomic control in a large-scale, case-control association study

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Lung eQTLs to help reveal the molecular underpinnings of asthma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Differential confounding of rare and common variants in spatially structured populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society: international multidisciplinary classification of lung adenocarcinoma: executive summary.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Cigarette smoking increases copy number alterations in nonsmall-cell lung cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

3 June 2018

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ProbABEL package for genome-wide association analysis of imputed data

3 June 2018

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Parental origin of sequence variants associated with complex diseases

3 June 2018

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

3 June 2018

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Environment And Genetics in Lung cancer Etiology (EAGLE) study: an integrative population-based case-control study of lung cancer

3 June 2018

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Properties of the six isoforms of p63: p53-like regulation in response to genotoxic stress and cross talk with DeltaNp73.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

National study of colorectal cancer genetics

3 June 2018

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The roles of p63 in cancer

3 June 2018

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EPIC-Germany--A source for studies into diet and risk of chronic diseases. European Investigation into Cancer and Nutrition

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Cancer risks in BRCA2 mutation carriers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074058

Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma.

3 June 2018

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Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer.

21 January 2018

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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

21 January 2018

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Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study.

21 January 2018

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Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers

21 January 2018

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Occupational exposure to vinyl chloride, acrylonitrile and styrene and lung cancer risk (europe).

21 January 2018

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Gene expression profiles of non-small cell lung cancer: survival prediction and new biomarkers.

21 January 2018

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Methods for etiologic and early marker investigations in the PLCO trial.

21 January 2018

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Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer.

21 January 2018

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Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

21 January 2018

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Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC.

21 January 2018

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Point: myeloperoxidase -463G --> a polymorphism and lung cancer risk.

21 January 2018

1 reference

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Cancer susceptibility of mice with a homozygous deletion in the COOH-terminal domain of the Brca2 gene.

26 November 2018

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Nuclear localization signals of the BRCA2 protein

26 November 2018

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12 December 2020

p51A (TAp63gamma), a p53 homolog, accumulates in response to DNA damage for cell regulation

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12 December 2020

The CYP3A4*1B allele increases risk for small cell lung cancer: effect of gender and smoking dose

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12 December 2020

The beta-carotene and retinol efficacy trial (CARET) for chemoprevention of lung cancer in high risk populations: smokers and asbestos-exposed workers

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12 December 2020

The alpha-tocopherol, beta-carotene lung cancer prevention study: design, methods, participant characteristics, and compliance. The ATBC Cancer Prevention Study Group

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12 December 2020

A polymorphic stop codon in BRCA2

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12 December 2020

Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations

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12 December 2020

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

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Identifiers

DOI

10.1038/NG.3002

1 reference

1241752

1241752

1 reference

1 reference

1 reference