List of works by Anna González-Neira

1576PGENOME WIDE ASSOCIATION STUDY (GWAS) FOR IDENTIFICATION OF SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) ASSOCIATED WITH INDIVIDUALS PRESENTING EXTREME PHENOTYPES OF TOBACCO INDUCED NON-SMALL CELL LUNG CANCER (NSCLC) RISK

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

scientific article published on 10 February 2009

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

scientific article

A common coding variant in CASP8 is associated with breast cancer risk

article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A polygenic model with common variants may predict lung adenocarcinoma risk in humans

article

A polymorphism in the cytidine deaminase promoter predicts severe capecitabine-induced hand-foot syndrome

scientific article published on 16 February 2011

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

Alternative primers for DYS391 typing: advantages of their application to forensic genetics

article

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk

scientific article

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

article

Association analysis between breast cancer genetic variants and mammographic density in a large population-based study (Determinants of Density in Mammographies in Spain) identifies susceptibility loci in TOX3 gene

scientific article published on 27 September 2012

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

scientific article published on 27 March 2012

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

scientific article (publication date: 12 February 2012)

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

article

DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the miR-17-92 Cluster

scientific article published on 03 June 2016

Distribution of Y-chromosome STR defined haplotypes in Iberia

scientific article published on 01 May 2000

ERCC4Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping

Early-onset familial lewy body dementia with extensive tauopathy: a clinical, genetic, and neuropathological study.

scientific article

Effect of ABCB1 and ABCC3 polymorphisms on osteosarcoma survival after chemotherapy: a pharmacogenetic study

scientific article (publication date: 2011)

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

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

scientific article

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

scientific article published on 14 September 2017

Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer

scientific article published on 27 September 2017

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

scientific article (publication date: 19 June 2011)

Exome sequencing of three cases of familial exceptional longevity.

scientific article

Extending STR markers in Y chromosome haplotypes.

scientific article

Extreme population differences across Neuregulin 1 gene, with implications for association studies.

scientific article published on January 2006

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Genetic alterations of IDH1 and Vegf in brain tumors.

scientific article published on August 2017

Genetic control of resistance to hepatocarcinogenesis by the mouse Hpcr3 locus

scientific article published in August 2008

Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes).

scientific article published on May 2002

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis

scientific article

Genetic polymorphisms among C57BL/6 mouse inbred strains

scientific article published on 27 May 2010

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

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

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis

scientific article

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

scientific article published on 30 November 2015

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

scientific article

Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy

scientific journal article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to lung cancer

scientific article published on 18 December 2009

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

scientific article published on 15 January 2009

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

scientific article

Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer.

scientific article published on 15 May 2018

Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22.

scientific article

Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection.

scientific article published on 14 November 2007

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

article

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of genetic variants associated with capecitabine-induced hand-foot syndrome through integration of patient and cell line genomic analyses

scientific article

Identification of genetic variants in pharmacokinetic genes associated with Ewing Sarcoma treatment outcome.

scientific article

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

Inflammatory-Related Genetic Variants in Non-Muscle-Invasive Bladder Cancer Prognosis: A Multimarker Bayesian Assessment.

scientific article published on 6 May 2016

Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts.

scientific article

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

scientific article

Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

scientific article published on 6 May 2009

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

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

scientific article

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis

article

Mouse genome-wide association mapping needs linkage analysis to avoid false-positive Loci

scientific article

Multiple Genetic Loci Modulate Lung Adenocarcinoma Clinical Staging

scientific article published on 17 January 2011

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Neurofibromatosis 1, and NotTP53, Seems to Be the Main Target of Chromosome 17 Deletions in De Novo Acute Myeloid Leukemia

scientific article published on 01 March 2007

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Optimisation of Y-STR multiplexing combining established and newly described loci

article by S Beleza et al published January 2003 in International Congress Series

Oxidative stress in susceptibility to breast cancer: study in Spanish population

scientific article

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

scientific article published on 12 October 2017

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Pharmacogenetics of chemotherapy efficacy in breast cancer

scientific article published on April 2012

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

RAD51B in Familial Breast Cancer

scientific article

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

scientific article

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex

scientific article published on 01 December 1999

Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies

Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph

scientific article

Standard versus continuous administration of capecitabine in metastatic breast cancer (GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic analysis

scientific article

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The GoldenGate genotyping assay: custom design, processing, and data analysis

scientific article

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium.

scientific article published on 7 May 2019

The portability of tagSNPs across populations: a worldwide survey

scientific article published on 8 February 2006

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors

scientific article published on 4 September 2009

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

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

scientific article

Variation in estimated recombination rates across human populations

article

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

scientific article

Y chromosome specific polymorphisms in forensic analysis

scientific article published on 01 April 1999

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

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