Vessela N. Kristensen
- Professor, Group leader
Publications 2024
Modeling of Mouse Experiments Suggests that Optimal Anti-Hormonal Treatment for Breast Cancer is Diet-Dependent
Bull Math Biol, 86 (4), 42
DOI 10.1007/s11538-023-01253-1, PubMed 38498130
Integrative pan-cancer analysis reveals a common architecture of dysregulated transcriptional networks characterized by loss of enhancer methylation
PLoS Comput Biol, 20 (11), e1012565 (in press)
DOI 10.1371/journal.pcbi.1012565, PubMed 39556603
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Am J Hum Genet, 111 (9), 2059-2069
DOI 10.1016/j.ajhg.2024.07.004, PubMed 39096911
The NEOLETRIB trial: neoadjuvant treatment with Letrozole and Ribociclib in ER-positive, HER2-negative breast cancer
Future Oncol, 20 (32), 2457-2466
DOI 10.1080/14796694.2024.2377531, PubMed 39073142
An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer
Mol Oncol, 18 (8), 2042-2059
DOI 10.1002/1878-0261.13656, PubMed 38671580
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (7), 1397-1411
DOI 10.1038/s41588-024-01798-4, PubMed 38951643
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (8), 1763-1764
DOI 10.1038/s41588-024-01857-w, PubMed 38982295
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer
Am J Hum Genet, 111 (10), 2150-2163
DOI 10.1016/j.ajhg.2024.08.009, PubMed 39270649
Impact of Prosigna test on adjuvant treatment decision in lymph node-negative early breast cancer-a prospective national multicentre study (EMIT-1)
ESMO Open, 9 (6), 103475
DOI 10.1016/j.esmoop.2024.103475, PubMed 38838499
Computational Model Predicts Patient Outcomes in Luminal B Breast Cancer Treated with Endocrine Therapy and CDK4/6 Inhibition
Clin Cancer Res, 30 (17), 3779-3787
DOI 10.1158/1078-0432.CCR-24-0244, PubMed 38922642
Copy number alterations: a catastrophic orchestration of the breast cancer genome
Trends Mol Med, 30 (8), 750-764
DOI 10.1016/j.molmed.2024.04.017, PubMed 38772764
The breast cancer coagulome in the tumor microenvironment and its role in prognosis and treatment response to chemotherapy
J Thromb Haemost, 22 (5), 1319-1335
DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862
Telomere length as a predictor of therapy response and survival in patients diagnosed with ovarian carcinoma
Heliyon, 10 (13), e33525
DOI 10.1016/j.heliyon.2024.e33525, PubMed 39050459
Benign breast tumors may arise on different immunological backgrounds
Mol Oncol, 18 (10), 2495-2509
DOI 10.1002/1878-0261.13655, PubMed 38757377
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
medRxiv
DOI 10.1101/2024.02.12.24302043, PubMed 38410445
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
medRxiv
DOI 10.1101/2024.09.04.24313051, PubMed 39281752
Publications 2023
Buffy coat signatures of breast cancer risk in a prospective cohort study
Clin Epigenetics, 15 (1), 102
DOI 10.1186/s13148-023-01509-6, PubMed 37309009
ABCB1 Amplicon Contains Cyclic AMP Response Element-Driven TRIP6 Gene in Taxane-Resistant MCF-7 Breast Cancer Sublines
Genes (Basel), 14 (2)
DOI 10.3390/genes14020296, PubMed 36833223
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Eur J Hum Genet, 31 (5), 578-587
DOI 10.1038/s41431-022-01257-w, PubMed 36707629
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers (Basel), 15 (13)
DOI 10.3390/cancers15133313, PubMed 37444426
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
medRxiv
DOI 10.1101/2023.06.14.23291322, PubMed 37503126
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
J Med Genet, 60 (12), 1186-1197
DOI 10.1136/jmg-2023-109185, PubMed 37451831
Analysis of Spatial Molecular Data
Methods Mol Biol, 2614, 349-356
DOI 10.1007/978-1-0716-2914-7_20, PubMed 36587134
MRI Assessment of Changes in Tumor Vascularization during Neoadjuvant Anti-Angiogenic Treatment in Locally Advanced Breast Cancer Patients
Cancers (Basel), 15 (18)
DOI 10.3390/cancers15184662, PubMed 37760629
The impact of coding germline variants on contralateral breast cancer risk and survival
Am J Hum Genet, 110 (3), 475-486
DOI 10.1016/j.ajhg.2023.02.003, PubMed 36827971
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Res Sq
DOI 10.21203/rs.3.rs-2569372/v1, PubMed 36824750
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Cancer Med, 12 (15), 16142-16162
DOI 10.1002/cam4.6272, PubMed 37401034
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Med, 15 (1), 7
DOI 10.1186/s13073-022-01152-5, PubMed 36703164
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
NPJ Breast Cancer, 9 (1), 37
DOI 10.1038/s41523-023-00546-x, PubMed 37173335
High-throughput screen in vitro identifies dasatinib as a candidate for combinatorial treatment with HER2-targeting drugs in breast cancer
PLoS One, 18 (1), e0280507
DOI 10.1371/journal.pone.0280507, PubMed 36706086
Transcriptomic pan-cancer analysis using rank-based Bayesian inference
Mol Oncol, 17 (4), 548-563
DOI 10.1002/1878-0261.13354, PubMed 36562628
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2
Hum Mutat, 2023
DOI 10.1155/2023/9961341, PubMed 38725546
Publications 2022
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Res, 24 (1), 2
DOI 10.1186/s13058-021-01484-x, PubMed 34983606
Epigenetic alterations at distal enhancers are linked to proliferation in human breast cancer
NAR Cancer, 4 (1), zcac008
DOI 10.1093/narcan/zcac008, PubMed 35350772
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
Commun Biol, 5 (1), 834
DOI 10.1038/s42003-022-03559-7, PubMed 35982125
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
JAMA Oncol, 8 (3), e216744
DOI 10.1001/jamaoncol.2021.6744, PubMed 35084436
Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers
Nucleic Acids Res, 50 (21), 12131-12148
DOI 10.1093/nar/gkac1143, PubMed 36477895
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Breast Cancer Res, 24 (1), 27
DOI 10.1186/s13058-022-01524-0, PubMed 35414113
Rare germline copy number variants (CNVs) and breast cancer risk
Commun Biol, 5 (1), 65
DOI 10.1038/s42003-021-02990-6, PubMed 35042965
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
Br J Sports Med, 56 (20), 1157-1170
DOI 10.1136/bjsports-2021-105132, PubMed 36328784
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Med, 14 (1), 51
DOI 10.1186/s13073-022-01052-8, PubMed 35585550
Incorporating progesterone receptor expression into the PREDICT breast prognostic model
Eur J Cancer, 173, 178-193
DOI 10.1016/j.ejca.2022.06.011, PubMed 35933885
Pioneer transcription factors are associated with the modulation of DNA methylation patterns across cancers
Epigenetics Chromatin, 15 (1), 13
DOI 10.1186/s13072-022-00444-9, PubMed 35440061
A regulatory network comprising let-7 miRNA and SMUG1 is associated with good prognosis in ER+ breast tumours
Nucleic Acids Res, 50 (18), 10449-10468
DOI 10.1093/nar/gkac807, PubMed 36156150
Quantification of Tumor Hypoxia through Unsupervised Modelling of Consumption and Supply Hypoxia MR Imaging in Breast Cancer
Cancers (Basel), 14 (5)
DOI 10.3390/cancers14051326, PubMed 35267636
miR-101-5p Acts as a Tumor Suppressor in HER2-Positive Breast Cancer Cells and Improves Targeted Therapy
Breast Cancer (Dove Med Press), 14, 25-39
DOI 10.2147/BCTT.S338404, PubMed 35256859
DNA methylation changes in response to neoadjuvant chemotherapy are associated with breast cancer survival
Breast Cancer Res, 24 (1), 43
DOI 10.1186/s13058-022-01537-9, PubMed 35751095
Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy
Front Oncol, 12, 1016958
DOI 10.3389/fonc.2022.1016958, PubMed 36531044
Kinase activity profiling in renal cell carcinoma, benign renal tissue and in response to four different tyrosine kinase inhibitors
Oncotarget, 13, 970-981
DOI 10.18632/oncotarget.28257, PubMed 36093296
Publications 2021
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
Genome Med, 13 (1), 72
DOI 10.1186/s13073-021-00880-4, PubMed 33926515
Lack of cross-resistance between non-steroidal and steroidal aromatase inhibitors in breast cancer patients: the potential role of the adipokine leptin
Breast Cancer Res Treat, 190 (3), 435-449
DOI 10.1007/s10549-021-06399-x, PubMed 34554372
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
Am J Hum Genet, 108 (7), 1190-1203
DOI 10.1016/j.ajhg.2021.05.013, PubMed 34146516
miRNA normalization enables joint analysis of several datasets to increase sensitivity and to reveal novel miRNAs differentially expressed in breast cancer
PLoS Comput Biol, 17 (2), e1008608
DOI 10.1371/journal.pcbi.1008608, PubMed 33566819
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women
N Engl J Med, 384 (5), 428-439
DOI 10.1056/NEJMoa1913948, PubMed 33471991
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Sci Rep, 11 (1), 19787
DOI 10.1038/s41598-021-99409-3, PubMed 34611289
Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3VNTR polymorphisms and gene co-expression
NPJ Breast Cancer, 7 (1), 118
DOI 10.1038/s41523-021-00329-2, PubMed 34508103
Efficient gene expression signature for a breast cancer immuno-subtype
PLoS One, 16 (1), e0245215
DOI 10.1371/journal.pone.0245215, PubMed 33434192
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Br J Cancer, 124 (4), 842-854
DOI 10.1038/s41416-020-01185-w, PubMed 33495599
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
Breast Cancer Res, 23 (1), 86
DOI 10.1186/s13058-021-01450-7, PubMed 34407845
Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Cancer Epidemiol Biomarkers Prev, 30 (4), 623-642
DOI 10.1158/1055-9965.EPI-20-0924, PubMed 33500318
MicroRNA in combination with HER2-targeting drugs reduces breast cancer cell viability in vitro
Sci Rep, 11 (1), 10893
DOI 10.1038/s41598-021-90385-2, PubMed 34035375
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
Br J Cancer, 125 (8), 1135-1145
DOI 10.1038/s41416-021-01432-8, PubMed 34341517
Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
Cancers (Basel), 13 (10)
DOI 10.3390/cancers13102370, PubMed 34069208
Publications 2020
Comparable cancer-relevant mutation profiles in synchronous ductal carcinoma in situ and invasive breast cancer
Cancer Rep (Hoboken), 3 (3), e1248
DOI 10.1002/cnr2.1248, PubMed 32671987
MiR-18a and miR-18b are expressed in the stroma of oestrogen receptor alpha negative breast cancers
BMC Cancer, 20 (1), 377
DOI 10.1186/s12885-020-06857-7, PubMed 32370743
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Nat Commun, 11 (1), 312
DOI 10.1038/s41467-019-14100-6, PubMed 31949161
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nat Genet, 52 (1), 56-73
DOI 10.1038/s41588-019-0537-1, PubMed 31911677
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Genet Epidemiol, 44 (5), 442-468
DOI 10.1002/gepi.22288, PubMed 32115800
Modeling molecular development of breast cancer in canine mammary tumors
Genome Res, 31 (2), 337-347
DOI 10.1101/gr.256388.119, PubMed 33361113
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Am J Hum Genet, 107 (5), 837-848
DOI 10.1016/j.ajhg.2020.09.001, PubMed 33022221
Spatial transcriptomics inferred from pathology whole-slide images links tumor heterogeneity to survival in breast and lung cancer
Sci Rep, 10 (1), 18802
DOI 10.1038/s41598-020-75708-z, PubMed 33139755
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Sci Rep, 10 (1), 9688
DOI 10.1038/s41598-020-65665-y, PubMed 32546843
DNA copy number motifs are strong and independent predictors of survival in breast cancer
Commun Biol, 3 (1), 153
DOI 10.1038/s42003-020-0884-6, PubMed 32242091
Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer - the MetAction study
Acta Oncol, 59 (7), 733-740
DOI 10.1080/0284186X.2020.1742377, PubMed 32208873
Loss of progesterone receptor is associated with distinct tyrosine kinase profiles in breast cancer
Breast Cancer Res Treat, 183 (3), 585-598
DOI 10.1007/s10549-020-05763-7, PubMed 32710281
Coagulation factor V is a marker of tumor-infiltrating immune cells in breast cancer
Oncoimmunology, 9 (1), 1824644
DOI 10.1080/2162402X.2020.1824644, PubMed 33457104
Immune phenotype of tumor microenvironment predicts response to bevacizumab in neoadjuvant treatment of ER-positive breast cancer
Int J Cancer, 147 (9), 2515-2525
DOI 10.1002/ijc.33108, PubMed 32488909
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nat Genet, 52 (6), 572-581
DOI 10.1038/s41588-020-0609-2, PubMed 32424353
Subtype-specific transcriptional regulators in breast tumors subjected to genetic and epigenetic alterations
Bioinformatics, 36 (4), 994-999
DOI 10.1093/bioinformatics/btz709, PubMed 31529022
Publications 2019
The NEOLETEXE trial: a neoadjuvant cross-over study exploring the lack of cross resistance between aromatase inhibitors
Future Oncol, 15 (32), 3675-3682
DOI 10.2217/fon-2019-0258, PubMed 31513453
Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation
Nat Commun, 10 (1), 1749
DOI 10.1038/s41467-019-09828-0, PubMed 30988298
Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
Nat Commun, 10 (1), 525
DOI 10.1038/s41467-019-08512-7, PubMed 30692535
Two truncating variants in FANCC and breast cancer risk
Sci Rep, 9 (1), 12524
DOI 10.1038/s41598-019-48804-y, PubMed 31467304
Genome-wide association study of germline variants and breast cancer-specific mortality
Br J Cancer, 120 (6), 647-657
DOI 10.1038/s41416-019-0393-x, PubMed 30787463
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nat Commun, 10 (1), 1741
DOI 10.1038/s41467-018-08053-5, PubMed 30988301
Shared heritability and functional enrichment across six solid cancers
Nat Commun, 10 (1), 431
DOI 10.1038/s41467-018-08054-4, PubMed 30683880
Publisher Correction: Shared heritability and functional enrichment across six solid cancers
Nat Commun, 10 (1), 4386
DOI 10.1038/s41467-019-12095-8, PubMed 31548585
Breast cancer quantitative proteome and proteogenomic landscape
Nat Commun, 10 (1), 1600
DOI 10.1038/s41467-019-09018-y, PubMed 30962452
Toward Personalized Computer Simulation of Breast Cancer Treatment: A Multiscale Pharmacokinetic and Pharmacodynamic Model Informed by Multitype Patient Data
Cancer Res, 79 (16), 4293-4304
DOI 10.1158/0008-5472.CAN-18-1804, PubMed 31118201
A Computational Framework for Genome-wide Characterization of the Human Disease Landscape
Cell Syst, 8 (2), 152-162.e6
DOI 10.1016/j.cels.2018.12.010, PubMed 30685436
miRNA expression changes during the course of neoadjuvant bevacizumab and chemotherapy treatment in breast cancer
Mol Oncol, 13 (10), 2278-2296
DOI 10.1002/1878-0261.12561, PubMed 31402562
Serum levels of inflammation-related markers and metabolites predict response to neoadjuvant chemotherapy with and without bevacizumab in breast cancers
Int J Cancer, 146 (1), 223-235
DOI 10.1002/ijc.32638, PubMed 31444972
miRNA551b-3p Activates an Oncostatin Signaling Module for the Progression of Triple-Negative Breast Cancer
Cell Rep, 29 (13), 4389-4406.e10
DOI 10.1016/j.celrep.2019.11.085, PubMed 31875548
An independent poor-prognosis subtype of breast cancer defined by a distinct tumor immune microenvironment
Nat Commun, 10 (1), 5499
DOI 10.1038/s41467-019-13329-5, PubMed 31796750
Development of high‑resolution melting analysis for ABCB1 promoter methylation: Clinical consequences in breast and ovarian carcinoma
Oncol Rep, 42 (2), 763-774
DOI 10.3892/or.2019.7186, PubMed 31173253
Publications 2018
Somatic EP300-G211S mutations are associated with overall somatic mutational patterns and breast cancer specific survival in triple-negative breast cancer
Breast Cancer Res Treat, 172 (2), 339-351
DOI 10.1007/s10549-018-4927-3, PubMed 30132219
Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
Nat Commun, 9 (1), 5397
DOI 10.1038/s41467-018-07842-2, PubMed 30559362
Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Nat Commun, 9, 16193
DOI 10.1038/ncomms16193, PubMed 29633761
Time series analysis of neoadjuvant chemotherapy and bevacizumab-treated breast carcinomas reveals a systemic shift in genomic aberrations
Genome Med, 10 (1), 92
DOI 10.1186/s13073-018-0601-y, PubMed 30497530
Noninvasive profiling of serum cytokines in breast cancer patients and clinicopathological characteristics
Oncoimmunology, 8 (2), e1537691
DOI 10.1080/2162402X.2018.1537691, PubMed 30713794
Serum cytokine levels in breast cancer patients during neoadjuvant treatment with bevacizumab
Oncoimmunology, 7 (11), e1457598
DOI 10.1080/2162402X.2018.1457598, PubMed 30377556
Correction to: A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 18 (1), 80
DOI 10.1186/s12885-017-3766-7, PubMed 29338700
Enrichment of methylated molecules using enhanced-ice-co-amplification at lower denaturation temperature-PCR (E-ice-COLD-PCR) for the sensitive detection of disease-related hypermethylation
Epigenomics, 10 (5), 525-537
DOI 10.2217/epi-2017-0166, PubMed 29697281
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Am J Hum Genet, 104 (1), 21-34
DOI 10.1016/j.ajhg.2018.11.002, PubMed 30554720
Associations between clinical symptoms, plasma norepinephrine and deregulated immune gene networks in subgroups of adolescent with Chronic Fatigue Syndrome
Brain Behav Immun, 76, 82-96
DOI 10.1016/j.bbi.2018.11.008, PubMed 30419269
Identification of nine new susceptibility loci for endometrial cancer
Nat Commun, 9 (1), 3166
DOI 10.1038/s41467-018-05427-7, PubMed 30093612
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses
Cancer Med, 7 (5), 1978-1987
DOI 10.1002/cam4.1445, PubMed 29608257
Basal-like breast cancer engages tumor-supportive macrophages via secreted factors induced by extracellular S100A4
Mol Oncol, 12 (9), 1540-1558
DOI 10.1002/1878-0261.12319, PubMed 29741811
MicroRNA Networks in Breast Cancer Cells
Methods Mol Biol, 1711, 55-81
DOI 10.1007/978-1-4939-7493-1_4, PubMed 29344885
Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study
J Thromb Haemost, 16 (7), 1347-1356
DOI 10.1111/jth.14151, PubMed 29766637
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
Nat Genet, 50 (7), 968-978
DOI 10.1038/s41588-018-0132-x, PubMed 29915430
Publications 2017
Integrative clustering reveals a novel split in the luminal A subtype of breast cancer with impact on outcome
Breast Cancer Res, 19 (1), 44
DOI 10.1186/s13058-017-0812-y, PubMed 28356166
Widespread alternative exon usage in clinically distinct subtypes of Invasive Ductal Carcinoma
Sci Rep, 7 (1), 5568
DOI 10.1038/s41598-017-05537-0, PubMed 28717182
Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
Nat Commun, 8 (1), 1221
DOI 10.1038/s41467-017-01355-0, PubMed 29089486
Bioinformatics Approaches to Profile the Tumor Microenvironment for Immunotherapeutic Discovery
Curr Pharm Des, 23 (32), 4716-4725
DOI 10.2174/1381612823666170710154936, PubMed 28699527
Data-driven analysis of immune infiltrate in a large cohort of breast cancer and its association with disease progression, ER activity, and genomic complexity
Oncotarget, 8 (34), 57121-57133
DOI 10.18632/oncotarget.19078, PubMed 28915659
DNA methylation signature (SAM40) identifies subgroups of the Luminal A breast cancer samples with distinct survival
Oncotarget, 8 (1), 1074-1082
DOI 10.18632/oncotarget.13718, PubMed 27911866
DNA methylation at enhancers identifies distinct breast cancer lineages
Nat Commun, 8 (1), 1379
DOI 10.1038/s41467-017-00510-x, PubMed 29123100
Body mass index and breast cancer survival: a Mendelian randomization analysis
Int J Epidemiol, 46 (6), 1814-1822
DOI 10.1093/ije/dyx131, PubMed 29232439
Serum concentrations of active tamoxifen metabolites predict long-term survival in adjuvantly treated breast cancer patients
Breast Cancer Res, 19 (1), 125
DOI 10.1186/s13058-017-0916-4, PubMed 29183390
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
Oncotarget, 8 (61), 102769-102782
DOI 10.18632/oncotarget.21800, PubMed 29262523
The Antigenicity of the Tumor Cell - Context Matters
N Engl J Med, 376 (5), 491-493
DOI 10.1056/NEJMcibr1613793, PubMed 28146670
Association analysis identifies 65 new breast cancer risk loci
Nature, 551 (7678), 92-94
DOI 10.1038/nature24284, PubMed 29059683
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nat Genet, 49 (12), 1767-1778
DOI 10.1038/ng.3785, PubMed 29058716
Prognostic value of PAM50 and risk of recurrence score in patients with early-stage breast cancer with long-term follow-up
Breast Cancer Res, 19 (1), 120
DOI 10.1186/s13058-017-0911-9, PubMed 29137653
Age, estrogen, and immune response in breast adenocarcinoma and adjacent normal tissue
Oncoimmunology, 6 (11), e1356142
DOI 10.1080/2162402X.2017.1356142, PubMed 29147603
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Cancer Res, 77 (11), 2789-2799
DOI 10.1158/0008-5472.CAN-16-2568, PubMed 28283652
The Longitudinal Transcriptional Response to Neoadjuvant Chemotherapy with and without Bevacizumab in Breast Cancer
Clin Cancer Res, 23 (16), 4662-4670
DOI 10.1158/1078-0432.CCR-17-0160, PubMed 28487444
Publications 2016
Five endometrial cancer risk loci identified through genome-wide association analysis
Nat Genet, 48 (6), 667-674
DOI 10.1038/ng.3562, PubMed 27135401
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Nat Commun, 7, 11375
DOI 10.1038/ncomms11375, PubMed 27117709
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
Sci Rep, 6, 32512
DOI 10.1038/srep32512, PubMed 27600471
Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing
Genome Biol, 17 (1), 250
DOI 10.1186/s13059-016-1109-7, PubMed 27931250
Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
Cancer Res, 76 (18), 5326-36
DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Nat Genet, 48 (4), 374-86
DOI 10.1038/ng.3521, PubMed 26928228
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
J Med Genet, 53 (5), 298-309
DOI 10.1136/jmedgenet-2015-103529, PubMed 26921362
GFRA3 promoter methylation may be associated with decreased postoperative survival in gastric cancer
BMC Cancer, 16, 225
DOI 10.1186/s12885-016-2247-8, PubMed 26984265
Cytokine profiling of tumor interstitial fluid of the breast and its relationship with lymphocyte infiltration and clinicopathological characteristics
Oncoimmunology, 5 (12), e1248015
DOI 10.1080/2162402X.2016.1248015, PubMed 28123884
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Am J Hum Genet, 99 (4), 903-911
DOI 10.1016/j.ajhg.2016.07.017, PubMed 27640304
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
PLoS Med, 13 (8), e1002105
DOI 10.1371/journal.pmed.1002105, PubMed 27551723
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
Oncotarget, 7 (49), 80140-80163
DOI 10.18632/oncotarget.12818, PubMed 27792995
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
PLoS One, 11 (8), e0160316
DOI 10.1371/journal.pone.0160316, PubMed 27556229
Subtype-specific micro-RNA expression signatures in breast cancer progression
Int J Cancer, 139 (5), 1117-28
DOI 10.1002/ijc.30142, PubMed 27082076
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Cancer Discov, 6 (9), 1052-67
DOI 10.1158/2159-8290.CD-15-1227, PubMed 27432226
A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 16 (1), 913
DOI 10.1186/s12885-016-2899-4, PubMed 27876019
Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management
Breast, 28, 136-44
DOI 10.1016/j.breast.2016.05.006, PubMed 27318168
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Nat Commun, 7, 12675
DOI 10.1038/ncomms12675, PubMed 27601076
Molecular Features of Subtype-Specific Progression from Ductal Carcinoma In Situ to Invasive Breast Cancer
Cell Rep, 16 (4), 1166-1179
DOI 10.1016/j.celrep.2016.06.051, PubMed 27396337
rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
Sci Rep, 6, 36874
DOI 10.1038/srep36874, PubMed 27845421
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk
Genet Med, 19 (5), 599-603
DOI 10.1038/gim.2016.147, PubMed 27711073
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Cancer Epidemiol Biomarkers Prev, 25 (11), 1503-1510
DOI 10.1158/1055-9965.EPI-16-0147, PubMed 27550749
RAD51B in Familial Breast Cancer
PLoS One, 11 (5), e0153788
DOI 10.1371/journal.pone.0153788, PubMed 27149063
Genetic predisposition to ductal carcinoma in situ of the breast
Breast Cancer Res, 18 (1), 22
DOI 10.1186/s13058-016-0675-7, PubMed 26884359
LIMT is a novel metastasis inhibiting lncRNA suppressed by EGF and downregulated in aggressive breast cancer
EMBO Mol Med, 8 (9), 1052-64
DOI 10.15252/emmm.201606198, PubMed 27485121
Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
J Clin Oncol, 34 (23), 2750-60
DOI 10.1200/JCO.2016.66.5844, PubMed 27269948
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Int J Cancer, 139 (6), 1303-1317
DOI 10.1002/ijc.30150, PubMed 27087578
Gene expression analysis supports tumor threshold over 2.0 cm for T-category breast cancer
EURASIP J Bioinform Syst Biol, 2016 (1), 6
DOI 10.1186/s13637-015-0034-5, PubMed 26900390
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
J Med Genet, 53 (12), 800-811
DOI 10.1136/jmedgenet-2016-103839, PubMed 27595995
Tumour hypoxia causes DNA hypermethylation by reducing TET activity
Nature, 537 (7618), 63-68
DOI 10.1038/nature19081, PubMed 27533040
Determinants of acquired activated protein C resistance and D-dimer in breast cancer
Thromb Res, 145, 78-83
DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Hum Mol Genet, 25 (17), 3863-3876
DOI 10.1093/hmg/ddw223, PubMed 27402876
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Cancer Causes Control, 27 (5), 679-93
DOI 10.1007/s10552-016-0741-6, PubMed 27053251
Publications 2015
Heterogeneous DNA Methylation Patterns in the GSTP1 Promoter Lead to Discordant Results between Assay Technologies and Impede Its Implementation as Epigenetic Biomarkers in Breast Cancer
Genes (Basel), 6 (3), 878-900
DOI 10.3390/genes6030878, PubMed 26393654
Integrated analysis reveals microRNA networks coordinately expressed with key proteins in breast cancer
Genome Med, 7 (1), 21
DOI 10.1186/s13073-015-0135-5, PubMed 25873999
Expression of an estrogen-regulated variant transcript of the peroxisomal branched chain fatty acid oxidase ACOX2 in breast carcinomas
BMC Cancer, 15, 524
DOI 10.1186/s12885-015-1510-8, PubMed 26183823
Genome-wide DNA methylation analyses in lung adenocarcinomas: Association with EGFR, KRAS and TP53 mutation status, gene expression and prognosis
Mol Oncol, 10 (2), 330-43
DOI 10.1016/j.molonc.2015.10.021, PubMed 26601720
Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN
PLoS One, 10 (5), e0126371
DOI 10.1371/journal.pone.0126371, PubMed 25955013
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1
Sci Rep, 5, 17369
DOI 10.1038/srep17369, PubMed 26621817
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
Am J Hum Genet, 97 (1), 22-34
DOI 10.1016/j.ajhg.2015.05.002, PubMed 26073781
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Nat Genet, 47 (11), 1294-1303
DOI 10.1038/ng.3412, PubMed 26414677
Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT
Obstet. Gynecol. Surv., 70 (12), 758-762
DOI 10.1097/01.ogx.0000473766.71624.99
Interaction between p53 mutation and a somatic HDMX biomarker better defines metastatic potential in breast cancer
Cancer Res, 75 (4), 698-708
DOI 10.1158/0008-5472.CAN-14-2637, PubMed 25649770
Identification of novel genetic markers of breast cancer survival
J Natl Cancer Inst, 107 (5)
DOI 10.1093/jnci/djv081, PubMed 25890600
Aberrant DNA methylation impacts gene expression and prognosis in breast cancer subtypes
Int J Cancer, 138 (1), 87-97
DOI 10.1002/ijc.29684, PubMed 26174627
Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate
Pharmacogenomics J, 15 (5), 385-90
DOI 10.1038/tpj.2015.11, PubMed 25778468
DNA methylation in ductal carcinoma in situ related with future development of invasive breast cancer
Clin Epigenetics, 7 (1), 75
DOI 10.1186/s13148-015-0094-0, PubMed 26213588
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
Carcinogenesis, 36 (2), 256-71
DOI 10.1093/carcin/bgu326, PubMed 25586992
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
Hum Genet, 135 (1), 137-54
DOI 10.1007/s00439-015-1616-8, PubMed 26621531
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy
Breast Cancer Res, 17 (1), 18
DOI 10.1186/s13058-015-0522-2, PubMed 25849327
Prediction of breast cancer risk based on profiling with common genetic variants
J Natl Cancer Inst, 107 (5)
DOI 10.1093/jnci/djv036, PubMed 25855707
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
J Natl Cancer Inst, 108 (2)
DOI 10.1093/jnci/djv315, PubMed 26586665
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Nat Genet, 47 (4), 373-80
DOI 10.1038/ng.3242, PubMed 25751625
Copy number variations alter methylation and parallel IGF2 overexpression in adrenal tumors
Endocr Relat Cancer, 22 (6), 953-67
DOI 10.1530/ERC-15-0086, PubMed 26400872
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer
Endocr Relat Cancer, 22 (5), 851-61
DOI 10.1530/ERC-15-0319, PubMed 26330482
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2
Hum Mol Genet, 24 (10), 2966-84
DOI 10.1093/hmg/ddv035, PubMed 25652398
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Gynecol Oncol, 141 (2), 386-401
DOI 10.1016/j.ygyno.2015.04.034, PubMed 25940428
Common germline polymorphisms associated with breast cancer-specific survival
Breast Cancer Res, 17 (1), 58
DOI 10.1186/s13058-015-0570-7, PubMed 25897948
Glycan-related gene expression signatures in breast cancer subtypes; relation to survival
Mol Oncol, 9 (4), 861-76
DOI 10.1016/j.molonc.2014.12.013, PubMed 25655580
Predicting prognosis and therapeutic response from interactions between lymphocytes and tumor cells
Mol Oncol, 9 (10), 2054-62
DOI 10.1016/j.molonc.2015.10.003, PubMed 26607741
A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients
BMC Cancer, 15, 978
DOI 10.1186/s12885-015-1957-7, PubMed 26674097
Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures
Cancer Res, 75 (12), 2457-67
DOI 10.1158/0008-5472.CAN-14-2012, PubMed 25862352
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
Endocr Relat Cancer, 23 (2), 77-91
DOI 10.1530/ERC-15-0386, PubMed 26574572
Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF
Breast Cancer Res, 17 (1), 44
DOI 10.1186/s13058-015-0548-5, PubMed 25882602
Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization
J Natl Cancer Inst, 107 (11)
DOI 10.1093/jnci/djv219, PubMed 26296642
Publications 2014
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
Hum Genet, 134 (2), 231-45
DOI 10.1007/s00439-014-1515-4, PubMed 25487306
Copy number gain of hsa-miR-569 at 3q26.2 leads to loss of TP53INP1 and aggressiveness of epithelial cancers
Cancer Cell, 26 (6), 863-879
DOI 10.1016/j.ccell.2014.10.010, PubMed 25490449
Integrated analysis of high-resolution DNA methylation profiles, gene expression, germline genotypes and clinical end points in breast cancer patients
Int J Cancer, 134 (11), 2615-25
DOI 10.1002/ijc.28606, PubMed 24395279
Genome-wide DNA methylation profiles in progression to in situ and invasive carcinoma of the breast with impact on gene transcription and prognosis
Genome Biol, 15 (8), 435
DOI 10.1186/PREACCEPT-2333349012841587, PubMed 25146004
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Nat Commun, 4, 4999
DOI 10.1038/ncomms5999, PubMed 25248036
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1
Am J Hum Genet, 96 (1), 5-20
DOI 10.1016/j.ajhg.2014.11.009, PubMed 25529635
Differential DNA methylation analysis of breast cancer reveals the impact of immune signaling in radiation therapy
Int J Cancer, 135 (9), 2085-95
DOI 10.1002/ijc.28862, PubMed 24658971
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Breast Cancer Res, 16 (3), R51
DOI 10.1186/bcr3662, PubMed 24887515
MicroRNA related polymorphisms and breast cancer risk
PLoS One, 9 (11), e109973
DOI 10.1371/journal.pone.0109973, PubMed 25390939
DNA methylation status of key cell-cycle regulators such as CDKNA2/p16 and CCNA1 correlates with treatment response to doxorubicin and 5-fluorouracil in locally advanced breast tumors
Clin Cancer Res, 20 (24), 6357-66
DOI 10.1158/1078-0432.CCR-14-0297, PubMed 25294903
Principles and methods of integrative genomic analyses in cancer
Nat Rev Cancer, 14 (5), 299-313
DOI 10.1038/nrc3721, PubMed 24759209
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy
Nat Commun, 5, 4051
DOI 10.1038/ncomms5051, PubMed 24937182
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Hum Mol Genet, 24 (1), 285-98
DOI 10.1093/hmg/ddu431, PubMed 25168388
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
Hum Mol Genet, 24 (5), 1478-92
DOI 10.1093/hmg/ddu552, PubMed 25378557
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
Hum Mol Genet, 23 (22), 6034-46
DOI 10.1093/hmg/ddu300, PubMed 24927736
Lymphocyte Invasion in IC10/Basal-Like Breast Tumors Is Associated with Wild-Type TP53
Mol Cancer Res, 13 (3), 493-501
DOI 10.1158/1541-7786.MCR-14-0387, PubMed 25351767
Long non-coding RNAs differentially expressed between normal versus primary breast tumor tissues disclose converse changes to breast cancer-related protein-coding genes
PLoS One, 9 (9), e106076
DOI 10.1371/journal.pone.0106076, PubMed 25264628
Genetic predisposition to in situ and invasive lobular carcinoma of the breast
PLoS Genet, 10 (4), e1004285
DOI 10.1371/journal.pgen.1004285, PubMed 24743323
TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance
Clin Cancer Res, 20 (13), 3569-80
DOI 10.1158/1078-0432.CCR-13-2943, PubMed 24803582
Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study
BMC Cancer, 14, 845
DOI 10.1186/1471-2407-14-845, PubMed 25407022
A tumor DNA complex aberration index is an independent predictor of survival in breast and ovarian cancer
Mol Oncol, 9 (1), 115-27
DOI 10.1016/j.molonc.2014.07.019, PubMed 25169931
Systematic assessment of prognostic gene signatures for breast cancer shows distinct influence of time and ER status
BMC Cancer, 14, 211
DOI 10.1186/1471-2407-14-211, PubMed 24645668
Publications 2013
Individual and combined effects of DNA methylation and copy number alterations on miRNA expression in breast tumors
Genome Biol, 14 (11), R126
DOI 10.1186/gb-2013-14-11-r126, PubMed 24257477
Identifying in-trans process associated genes in breast cancer by integrated analysis of copy number and expression data
PLoS One, 8 (1), e53014
DOI 10.1371/journal.pone.0053014, PubMed 23382830
Improving breast cancer survival analysis through competition-based multidimensional modeling
PLoS Comput Biol, 9 (5), e1003047
DOI 10.1371/journal.pcbi.1003047, PubMed 23671412
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Nat Genet, 45 (4), 371-84, 384e1-2
DOI 10.1038/ng.2566, PubMed 23535731
SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling
Int J Radiat Oncol Biol Phys, 86 (4), 791-9
DOI 10.1016/j.ijrobp.2013.02.025, PubMed 23597419
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Am J Hum Genet, 92 (4), 489-503
DOI 10.1016/j.ajhg.2013.01.002, PubMed 23540573
Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Nat Genet, 45 (4), 392-8, 398e1-2
DOI 10.1038/ng.2561, PubMed 23535733
Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clinico-pathological factors in breast tumors
BMC Cancer, 13, 456
DOI 10.1186/1471-2407-13-456, PubMed 24093668
Genome-wide association study in breast cancer survivors reveals SNPs associated with gene expression of genes belonging to MHC class I and II
Genomics, 102 (4), 278-87
DOI 10.1016/j.ygeno.2013.07.006, PubMed 23880221
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
J Med Genet, 50 (10), 666-73
DOI 10.1136/jmedgenet-2013-101708, PubMed 23825393
Systematic analysis of challenge-driven improvements in molecular prognostic models for breast cancer
Sci Transl Med, 5 (181), 181re1
DOI 10.1126/scitranslmed.3006112, PubMed 23596205
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1
Am J Hum Genet, 93 (6), 1046-60
DOI 10.1016/j.ajhg.2013.10.026, PubMed 24290378
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Nat Genet, 45 (4), 353-61, 361e1-2
DOI 10.1038/ng.2563, PubMed 23535729
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
Hum Mol Genet, 23 (7), 1934-46
DOI 10.1093/hmg/ddt581, PubMed 24242184
Next-generation sequencing of disseminated tumor cells
Front Oncol, 3, 320
DOI 10.3389/fonc.2013.00320, PubMed 24427740
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Carcinogenesis, 35 (5), 1012-9
DOI 10.1093/carcin/bgt404, PubMed 24325915
The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors
Mol Oncol, 8 (2), 273-84
DOI 10.1016/j.molonc.2013.11.008, PubMed 24388359
Gene expression profile analysis of t1 and t2 breast cancer reveals different activation pathways
ISRN Oncol, 2013, 924971
DOI 10.1155/2013/924971, PubMed 23533813
Deregulation of cancer-related miRNAs is a common event in both benign and malignant human breast tumors
Carcinogenesis, 35 (1), 76-85
DOI 10.1093/carcin/bgt333, PubMed 24104550
Differential inhibition of ex-vivo tumor kinase activity by vemurafenib in BRAF(V600E) and BRAF wild-type metastatic malignant melanoma
PLoS One, 8 (8), e72692
DOI 10.1371/journal.pone.0072692, PubMed 24023633
Publications 2012
Gefitinib in Combination with Weekly Docetaxel in Patients with Metastatic Breast Cancer Caused Unexpected Toxicity: Results from a Randomized Phase II Clinical Trial
ISRN Oncol, 2012, 176789
DOI 10.5402/2012/176789, PubMed 22666610
Genome-wide association analysis identifies three new breast cancer susceptibility loci
Nat Genet, 44 (3), 312-8
DOI 10.1038/ng.1049, PubMed 22267197
Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
PLoS One, 7 (8), e42380
DOI 10.1371/journal.pone.0042380, PubMed 22879957
Potential tumorigenic programs associated with TP53 mutation status reveal role of VEGF pathway
Br J Cancer, 107 (10), 1722-8
DOI 10.1038/bjc.2012.461, PubMed 23079576
Overrepresentation of transcription factor families in the genesets underlying breast cancer subtypes
BMC Genomics, 13, 199
DOI 10.1186/1471-2164-13-199, PubMed 22616941
11q13 is a susceptibility locus for hormone receptor positive breast cancer
Hum Mutat, 33 (7), 1123-32
DOI 10.1002/humu.22089, PubMed 22461340
Molecular profiles of pre- and postoperative breast cancer tumours reveal differentially expressed genes
ISRN Oncol, 2012, 450267
DOI 10.5402/2012/450267, PubMed 23227362
19p13.1 is a triple-negative-specific breast cancer susceptibility locus
Cancer Res, 72 (7), 1795-803
DOI 10.1158/0008-5472.CAN-11-3364, PubMed 22331459
Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk
Cancer Epidemiol Biomarkers Prev, 21 (7), 1156-66
DOI 10.1158/1055-9965.EPI-12-0066, PubMed 22454379
Detection of frequent ABCB1 polymorphisms by high-resolution melting curve analysis and their effect on breast carcinoma prognosis
Clin Chem Lab Med, 50 (11), 1999-2007
DOI 10.1515/cclm-2012-0103, PubMed 23093106
Analyzing cancer samples with SNP arrays
Methods Mol Biol, 802, 57-72
DOI 10.1007/978-1-61779-400-1_4, PubMed 22130873
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
J Clin Oncol, 30 (35), 4308-16
DOI 10.1200/JCO.2012.42.7336, PubMed 23109706
Publications 2011
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
Hum Mol Genet, 20 (16), 3289-303
DOI 10.1093/hmg/ddr228, PubMed 21596841
miRNA-mRNA integrated analysis reveals roles for miRNAs in primary breast tumors
PLoS One, 6 (2), e16915
DOI 10.1371/journal.pone.0016915, PubMed 21364938
Serum estradiol levels associated with specific gene expression patterns in normal breast tissue and in breast carcinomas
BMC Cancer, 11, 332
DOI 10.1186/1471-2407-11-332, PubMed 21812955
Gene expression profiles of breast biopsies from healthy women identify a group with claudin-low features
BMC Med Genomics, 4, 77
DOI 10.1186/1755-8794-4-77, PubMed 22044755
Divide and conquer: the genetic basis of molecular subclassification of breast cancer
EMBO Mol Med, 3 (4), 183-5
DOI 10.1002/emmm.201100128, PubMed 21394915
Integrated molecular profiles of invasive breast tumors and ductal carcinoma in situ (DCIS) reveal differential vascular and interleukin signaling
Proc Natl Acad Sci U S A, 109 (8), 2802-7
DOI 10.1073/pnas.1108781108, PubMed 21908711
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer
Cancer Epidemiol Biomarkers Prev, 20 (10), 2222-31
DOI 10.1158/1055-9965.EPI-11-0569, PubMed 21795498
Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway
Brain Behav Immun, 25 (7), 1376-83
DOI 10.1016/j.bbi.2011.04.001, PubMed 21496483
Linear and non-linear dependencies between copy number aberrations and mRNA expression reveal distinct molecular pathways in breast cancer
BMC Bioinformatics, 12, 197
DOI 10.1186/1471-2105-12-197, PubMed 21609452
Basal-like Breast cancer DNA copy number losses identify genes involved in genomic instability, response to therapy, and patient survival
Breast Cancer Res Treat, 133 (3), 865-80
DOI 10.1007/s10549-011-1846-y, PubMed 22048815
Combining gene signatures improves prediction of breast cancer survival
PLoS One, 6 (3), e17845
DOI 10.1371/journal.pone.0017845, PubMed 21423775
Publications 2010
Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density
BMC Med Genomics, 3, 9
DOI 10.1186/1755-8794-3-9, PubMed 20302654
On the molecular biology of breast cancer
Mol Oncol, 4 (3), 171-3
DOI 10.1016/j.molonc.2010.04.007, PubMed 20483673
DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response
Mol Cancer, 9, 68
DOI 10.1186/1476-4598-9-68, PubMed 20338046
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance
Pharmacogenomics J, 10 (6), 513-23
DOI 10.1038/tpj.2010.6, PubMed 20157331
NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations
Mol Cancer, 9, 113
DOI 10.1186/1476-4598-9-113, PubMed 20482849
Expression levels of uridine 5'-diphospho-glucuronosyltransferase genes in breast tissue from healthy women are associated with mammographic density
Breast Cancer Res, 12 (4), R65
DOI 10.1186/bcr2632, PubMed 20799965
The epigenetics of breast cancer
Mol Oncol, 4 (3), 242-54
DOI 10.1016/j.molonc.2010.04.002, PubMed 20627830
Mutations for the people
EMBO Mol Med, 2 (5), 143-5
DOI 10.1002/emmm.201000071, PubMed 20461736
The genetics and epigenetics of fatigue
PM R, 2 (5), 456-65
DOI 10.1016/j.pmrj.2010.04.003, PubMed 20656628
Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer
Breast Cancer Res, 12 (1), R3
DOI 10.1186/bcr2466, PubMed 20056007
Linkage disequilibrium between the CYP2C19*17 allele and wildtype CYP2C8 and CYP2C9 alleles: identification of CYP2C haplotypes in healthy Nordic populations
Eur J Clin Pharmacol, 66 (12), 1199-205
DOI 10.1007/s00228-010-0864-8, PubMed 20665013
Expression of BMI-1 and Mel-18 in breast tissue--a diagnostic marker in patients with breast cancer
BMC Cancer, 10, 686
DOI 10.1186/1471-2407-10-686, PubMed 21162745
Methylation profiling with a panel of cancer related genes: association with estrogen receptor, TP53 mutation status and expression subtypes in sporadic breast cancer
Mol Oncol, 5 (1), 61-76
DOI 10.1016/j.molonc.2010.11.004, PubMed 21212030
Allele-specific copy number analysis of tumors
Proc Natl Acad Sci U S A, 107 (39), 16910-5
DOI 10.1073/pnas.1009843107, PubMed 20837533
Publications 2009
Association of ESR1 gene tagging SNPs with breast cancer risk
Hum Mol Genet, 18 (6), 1131-9
DOI 10.1093/hmg/ddn429, PubMed 19126777
Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium
Cancer Epidemiol Biomarkers Prev, 18 (5), 1610-6
DOI 10.1158/1055-9965.EPI-08-0745, PubMed 19423537
A mitochondrial target sequence polymorphism in manganese superoxide dismutase predicts inferior survival in breast cancer patients treated with cyclophosphamide
Clin Cancer Res, 15 (12), 4165-73
DOI 10.1158/1078-0432.CCR-09-0119, PubMed 19509150
Functional glutathione S-transferase genotypes among testicular germ cell tumor survivors: associations with primary and post-chemotherapy tumor histology
Pharmacogenet Genomics, 19 (10), 751-9
DOI 10.1097/FPC.0b013e3283304253, PubMed 19741569
Protein lysate microarray analysis to identify microRNAs regulating estrogen receptor signaling in breast cancer cell lines
Oncogene, 28 (44), 3926-36
DOI 10.1038/onc.2009.241, PubMed 19684618
Glycan gene expression signatures in normal and malignant breast tissue; possible role in diagnosis and progression
Mol Oncol, 4 (2), 98-118
DOI 10.1016/j.molonc.2009.12.001, PubMed 20060370
Integrated study of copy number states and genotype calls using high-density SNP arrays
Nucleic Acids Res, 37 (16), 5365-77
DOI 10.1093/nar/gkp493, PubMed 19581427
Publications 2008
Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors
BMC Genomics, 9, 379
DOI 10.1186/1471-2164-9-379, PubMed 18691401
Gene expression analyses in breast cancer epidemiology: the Norwegian Women and Cancer postgenome cohort study
Breast Cancer Res, 10 (1), R13
DOI 10.1186/bcr1859, PubMed 18271962
ESR1 gene amplification in breast cancer: a common phenomenon?
Nat Genet, 40 (7), 807-8; author reply 810-2
DOI 10.1038/ng0708-807, PubMed 18583965
SNPs associated with molecular subtypes of breast cancer: on the usefulness of stratified Genome-wide Association Studies (GWAS) in the identification of novel susceptibility loci
Mol Oncol, 2 (1), 12-5
DOI 10.1016/j.molonc.2008.02.003, PubMed 19383324
Accounting for haplotype phase uncertainty in linkage disequilibrium estimation
Genet Epidemiol, 32 (2), 168-78
DOI 10.1002/gepi.20273, PubMed 17968987
Accounting for haplotype phase uncertainty in linkage disequilibrium estimation (vol 32, pg 168, 2008)
Genet. Epidemiol., 32 (6), 586-587
DOI 10.1002/gepi.20332
Pathway based analysis of SNPs with relevance to 5-FU therapy: relation to intratumoral mRNA expression and survival
Int J Cancer, 123 (3), 577-85
DOI 10.1002/ijc.23541, PubMed 18498133
Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients
Genes Chromosomes Cancer, 47 (8), 680-96
DOI 10.1002/gcc.20569, PubMed 18398821
GSTP1 promoter haplotypes affect DNA methylation levels and promoter activity in breast carcinomas
Cancer Res, 68 (14), 5562-71
DOI 10.1158/0008-5472.CAN-07-5828, PubMed 18632608
Transcriptional networks inferred from molecular signatures of breast cancer
Am J Pathol, 172 (2), 495-509
DOI 10.2353/ajpath.2008.061079, PubMed 18187569
Single nucleotide polymorphisms in the multidrug resistance gene 1 (ABCB1): effects on its expression and clinicopathological characteristics in breast cancer patients
Pharmacogenet Genomics, 18 (3), 263-73
DOI 10.1097/FPC.0b013e3282f60a91, PubMed 18300948
Publications 2007
Pharmacokinetic analysis of two different docetaxel dose levels in patients with non-small cell lung cancer treated with docetaxel as monotherapy or with concurrent radiotherapy
BMC Cancer, 7, 197
DOI 10.1186/1471-2407-7-197, PubMed 17956601
Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas
Breast Cancer Res, 9 (1), R5
DOI 10.1186/bcr1637, PubMed 17224074
Germline glutathione S-transferase variants in breast cancer: relation to diagnosis and cutaneous long-term adverse effects after two fractionation patterns of radiotherapy
Int J Radiat Oncol Biol Phys, 67 (4), 1163-71
DOI 10.1016/j.ijrobp.2006.11.009, PubMed 17336217
Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence
Radiat Oncol, 2, 25
DOI 10.1186/1748-717X-2-25, PubMed 17623063
Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer
Int J Cancer, 121 (11), 2532-8
DOI 10.1002/ijc.22985, PubMed 17683073
Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor status
Cancer Epidemiol Biomarkers Prev, 16 (11), 2269-75
DOI 10.1158/1055-9965.EPI-07-0449, PubMed 18006915
Pooled analysis and meta-analysis of the glutathione S-transferase P1 Ile 105Val polymorphism and bladder cancer: a HuGE-GSEC review
Am J Epidemiol, 165 (11), 1221-30
DOI 10.1093/aje/kwm003, PubMed 17404387
Genes harbouring susceptibility SNPs are differentially expressed in the breast cancer subtypes
Breast Cancer Res, 9 (6), 113
DOI 10.1186/bcr1784, PubMed 18036273
ABCB1 and GST polymorphisms associated with TP53 status in breast cancer
Pharmacogenet Genomics, 17 (2), 127-36
DOI 10.1097/FPC.0b013e328011abaa, PubMed 17301692
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics
Genome Res, 18 (1), 77-87
DOI 10.1101/gr.6859308, PubMed 18032726
A supervised approach for identifying discriminating genotype patterns and its application to breast cancer data
Bioinformatics, 23 (2), e91-8
DOI 10.1093/bioinformatics/btl298, PubMed 17237111
Publications 2006
Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds
Pharmacogenet Genomics, 16 (3), 207-17
DOI 10.1097/01.fpc.0000194422.12770.fb, PubMed 16495780
A new perspective on Renn and Klinke's approach to risk evaluation and management
Reliab. Eng. Syst. Saf., 91 (4), 421-432
DOI 10.1016/j.ress.2005.02.006
Genetic variation in putative regulatory loci controlling gene expression in breast cancer
Proc Natl Acad Sci U S A, 103 (20), 7735-40
DOI 10.1073/pnas.0601893103, PubMed 16684880
Multilocus analysis of SNP and metabolic data within a given pathway
BMC Genomics, 7, 5
DOI 10.1186/1471-2164-7-5, PubMed 16412218
A quality assessment survey of SNP genotyping laboratories
Hum Mutat, 27 (7), 711-4
DOI 10.1002/humu.20346, PubMed 16786507
Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review
Am J Epidemiol, 165 (2), 115-25
DOI 10.1093/aje/kwj365, PubMed 17053044
The novel p21 polymorphism p21G251A is associated with locally advanced breast cancer
Clin Cancer Res, 12 (20 Pt 1), 6000-4
DOI 10.1158/1078-0432.CCR-05-2822, PubMed 17062672
ATM variants and cancer risk in breast cancer patients from Southern Finland
BMC Cancer, 6, 209
DOI 10.1186/1471-2407-6-209, PubMed 16914028
Analysis of SNP-expression association matrices
J Bioinform Comput Biol, 4 (2), 259-74
DOI 10.1142/s0219720006001953, PubMed 16819783
Use of ALARP evaluations and risk acceptance criteria for risk informed decision-making in the Norwegian offshore petroleum industry
PROC MONOGR ENG WATE, 2567-+
Publications 2005
Perspectives on risk: review and discussion of the basis for establishing a unified and holistic approach
Reliab. Eng. Syst. Saf., 90 (1), 1-14
DOI 10.1016/j.ress.2004.10.008
Proceedings of the Fourth International Conference on Recent Advances and Future Directions in Endocrine Manipulation of Breast Cancer: conference summary statement
Clin Cancer Res, 11 (2 Pt 2), 861s-4s
PubMed 15701878
Gene expression profiling of breast cancer in relation to estrogen receptor status and estrogen-metabolizing enzymes: clinical implications
Clin Cancer Res, 11 (2 Pt 2), 878s-83s
PubMed 15701881
Effects of anastrozole on the intratumoral gene expression in locally advanced breast cancer
J Steroid Biochem Mol Biol, 95 (1-5), 105-11
DOI 10.1016/j.jsbmb.2005.04.028, PubMed 16023338
Analysis of SNP-expression association matrices
Proc IEEE Comput Syst Bioinform Conf, 135-43
DOI 10.1109/csb.2005.14, PubMed 16447971
Publications 2004
Association of metabolic gene polymorphisms with tobacco consumption in healthy controls
Int J Cancer, 110 (2), 266-70
DOI 10.1002/ijc.20114, PubMed 15069692
Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene
BMC Biotechnol, 4, 28
DOI 10.1186/1472-6750-4-28, PubMed 15563733
[Polymorphisms of CYP1B1 and COMT in breast and endometrial cancer]
Mol Biol (Mosk), 38 (3), 386-93
PubMed 15285606
Publications 2003
How to approach modelling in a risk analysis
SAFETY AND RELIABILITY, VOLS 1 AND 2, 969-976
BUB1 infrequently mutated in human breast carcinomas
Hum Mutat, 22 (5), 420
DOI 10.1002/humu.9194, PubMed 14517964
Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin
Eur J Hum Genet, 11 (5), 416-9
DOI 10.1038/sj.ejhg.5200972, PubMed 12734548
Intratumoural mRNA expression of genes from the oestradiol metabolic pathway and clinical and histopathological parameters of breast cancer
Breast Cancer Res, 6 (2), R46-55
DOI 10.1186/bcr746, PubMed 14979917
Publications 2002
Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas
Int Arch Occup Environ Health, 75 Suppl, S86-92
DOI 10.1007/s00420-002-0353-1, PubMed 12397416
Publications 2001
Hypervariable area in the 5' flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat
Hum Mutat, 17 (3), 238-9
DOI 10.1002/humu.17, PubMed 11241854
[Genetic polymorphism and variability of steroid hormone metabolism: connection with risk of developing breast neoplasms]
Vopr Onkol, 47 (2), 156-9
PubMed 11383450
High-throughput methods for detection of genetic variation
Biotechniques, 30 (2), 318-22, 324, 326 passim
DOI 10.2144/01302tt01, PubMed 11233601
Genetic susceptibility and environmental estrogen-like compounds
Mutat Res, 482 (1-2), 77-82
DOI 10.1016/s0027-5107(01)00212-3, PubMed 11535251
Low frequency of E-cadherin alterations in familial breast cancer
Breast Cancer Res, 3 (3), 199-207
DOI 10.1186/bcr295, PubMed 11305955
Publications 2000
Molecular epidemiology of breast cancer: genetic variation in steroid hormone metabolism
Mutat Res, 462 (2-3), 323-33
DOI 10.1016/s1383-5742(00)00018-1, PubMed 10767642
Genetic variants of CYP19 (aromatase) and breast cancer risk
Oncogene, 19 (10), 1329-33
DOI 10.1038/sj.onc.1203425, PubMed 10713674
Publications 1998
High-throughput screening for known mutations by automated analysis of single sequencing reactions
Biotechniques, 24 (5), 832-5
DOI 10.2144/98245dt04, PubMed 9591134
A rare CYP19 (aromatase) variant may increase the risk of breast cancer
Pharmacogenetics, 8 (1), 43-8
DOI 10.1097/00008571-199802000-00006, PubMed 9511180
Publications 1997
Improved electrophoretic separation of polymorphic short tandem repeats in agarose gels using bis-benzimide
Biotechniques, 23 (4), 634-6
DOI 10.2144/97234bm18, PubMed 9343680