selected publications
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academic article
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Nature Genetics.
50.
2018
Association between birth weight and educational attainment: an individual-based pooled analysis of nine twin cohorts.
Journal of Epidemiology & Community Health.
72.
2018
Association of current and former smoking with body mass index: A study of smoking discordant twin pairs from 21 twin cohorts.
PLoS ONE.
13.
2018
Associations between birth size and later height from infancy through adulthood: An individual based pooled analysis of 28 twin cohorts participating in the CODATwins project.
Early Human Development.
120.
2018
Birth size and gestational age in opposite-sex twins as compared to same-sex twins: An individual-based pooled analysis of 21 cohorts.
Scientific Reports.
8.
2018
Cancer Risks for PMS2-Associated Lynch Syndrome.
Journal of Clinical Oncology.
36.
2018
Genetic and environmental factors affecting birth size variation: a pooled individual-based analysis of secular trends and global geographical differences using 26 twin cohorts..
International Journal of Epidemiology.
47.
2018
Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium..
International Journal of Epidemiology.
47.
2018
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Human Mutation.
39.
2018
Association analysis identifies 65 new breast cancer risk loci.
Nature.
551.
2017
Association between birthweight and later body mass index: an individual-based pooled analysis of 27 twin cohorts participating in the CODATwins project.
International Journal of Epidemiology.
46.
2017
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Cancer Research.
77.
2017
Body mass index and breast cancer survival: a Mendelian randomization analysis.
International Journal of Epidemiology.
46.
2017
Does the sex of one’s co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts.
Biology of Sex Differences.
8.
2017
Education in Twins and Their Parents Across Birth Cohorts Over 100 years: An Individual-Level Pooled Analysis of 42-Twin Cohorts.
Twin Research and Human Genetics.
20.
2017
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Genetics in Medicine.
19.
2017
Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
International Journal of Cancer.
141.
2017
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Nature Genetics.
49.
2017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature Genetics.
49.
2017
Is this back pain killing me? All‐cause and cardiovascular‐specific mortality in older Danish twins with spinal pain.
European Journal of Pain.
21.
2017
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Oncotarget.
8.
2017
Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Breast Cancer Research.
19.
2017
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
JAMA.
317.
2017
Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Journal of Clinical Oncology.
34.
2016
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression..
Human Molecular Genetics.
25.
2016
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Oncotarget.
5.
2016
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.
Cancer Causes & Control.
27.
2016
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics.
48.
2016
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
American Journal of Human Genetics.
99.
2016
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Scientific Reports.
6.
2016
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
PLoS ONE.
11.
2016
Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.
International Journal of Cancer.
139.
2016
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus.
Nature Communications.
7.
2016
Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994.
eLife.
5.
2016
Genetic predisposition to ductal carcinoma in situ of the breast.
Breast Cancer Research.
18.
2016
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.
Human Genetics.
135.
2016
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
PLoS Medicine.
13.
2016
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 Discovery.
6.
2016
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Nature Genetics.
48.
2016
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nature Communications.
7.
2016
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Breast Cancer Research.
18.
2016
Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered? A Co-Twin Control Study of Spanish Twins.
PLoS ONE.
11.
2016
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Gynecologic Oncology.
141.
2016
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Journal of Medical Genetics.
53.
2016
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Journal of Medical Genetics.
53.
2016
Protective and Harmful Effects of Physical Activity for Low Back Pain: A Protocol for the AUstralian Twin BACK Pain (AUTBACK) Feasibility Study.
Twin Research and Human Genetics.
19.
2016
RAD51B in Familial Breast Cancer.
PLoS ONE.
11.
2016
Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age: A Pooled Study of 26 Twin Cohorts Participating in the CODATwins Project.
Twin Research and Human Genetics.
19.
2016
rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk.
Scientific Reports.
6.
2016
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.
Endocrine Related Cancer.
23.
2015
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research.
17.
2015
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1.
American Journal of Human Genetics.
96.
2015
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Human Molecular Genetics.
24.
2015
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nature Genetics.
47.
2015
Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization.
Journal of the National Cancer Institute.
107.
2015
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Human Molecular Genetics.
24.
2015
Identification of Novel Genetic Markers of Breast Cancer Survival.
Journal of the National Cancer Institute.
107.
2015
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.
2015
Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.
International Journal of Cancer.
136.
2015
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature Genetics.
47.
2015
Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
American Journal of Human Genetics.
97.
2015
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants.
Journal of the National Cancer Institute.
107.
2015
Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci.
Cancer Epidemiology Biomarkers & Prevention.
24.
2015
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival.
Oncotarget.
6.
2015
The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits.
Twin Research and Human Genetics.
18.
2015
Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age: A Study of the CODATwins Project.
Twin Research and Human Genetics.
18.
2015
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.
Human Molecular Genetics.
23.
2014
Alcohol Consumption and Survival after a Breast Cancer Diagnosis: A Literature-Based Meta-analysis and Collaborative Analysis of Data for 29,239 Cases.
Cancer Epidemiology Biomarkers & Prevention.
23.
2014
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nature Genetics.
46.
2014
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Human Molecular Genetics.
23.
2014
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLOS Genetics.
10.
2014
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Nature Communications.
5.
2014
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.
British Journal of Cancer.
110.
2014
Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast.
PLOS Genetics.
10.
2014
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Breast Cancer Research.
16.
2014
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
Human Molecular Genetics.
23.
2014
Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene‐Environment Interactions.
Genetic Epidemiology.
38.
2014
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature.
514.
2014
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dataset
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MOESM1 of Prediction and clinical utility of a contralateral breast cancer risk model.
springer-nature.
2019
MOESM2 of Prediction and clinical utility of a contralateral breast cancer risk model.
springer-nature.
2019
Association of current and former smoking with body mass index: A study of smoking discordant twin pairs from 21 twin cohorts.
public-library-of-science.
2018
Descriptive statistics of age and BMI (kg/m2) by smoking status over time between 1960 and 2012 in 156,593 twin individuals (80,384 men; 76,210 women) with 30,014 smoking discordant pairwise measurements in the CODATwins database..
public-library-of-science.
2018
Associations between genetically predicted BMI and breast cancer risk..
public-library-of-science.
2016
Associations of the weighted BMI-GSs with BMI and traditional breast cancer risk factors..
public-library-of-science.
2016
Baseline characteristics of participants for ‘myocardial infarction’ lifetime and in the last two years..
public-library-of-science.
2016
Baseline characteristics of participants for ‘other coronary heart diseases’ lifetime and in the last two years..
public-library-of-science.
2016
Estimated haplotype frequencies and haplotype-specific ORs among the BCAC dataset..
public-library-of-science.
2016
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
public-library-of-science.
2016
Frequencies and ORs for the SNPs rs2588809, rs1314913, and rs999737 for all breast cancer cases, familial cases and ER-positive and -negative cases in the BCAC dataset..
public-library-of-science.
2016
Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series..
public-library-of-science.
2016
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
public-library-of-science.
2016
RAD51B in Familial Breast Cancer.
public-library-of-science.
2016
Significant associations detected at p < 0.05 between breast cancer risk and BMI-related SNPs..
public-library-of-science.
2016
Total sample analysis and co-twin control analyses for myocardial infarction lifetime and in the last 2 years..
public-library-of-science.
2016
Total sample analysis and co-twin control analyses for other coronary heart diseases lifetime and in the last 2 years..
public-library-of-science.
2016
Two independent association signals at the 1p11.2 locus: Association results for breast cancer risk among European women in BCAC, by tumor characteristic..
public-library-of-science.
2016
Two independent association signals at the 1p11.2 locus: Association results for breast cancer risk among women in BCAC, by ancestry..
public-library-of-science.
2016
Variants identified in the screening of the RAD51B gene (RefSeq NM_133509.3)..
public-library-of-science.
2016
Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors.
public-library-of-science.
2015
Associations with breast and ovarian cancer risk for SNPs observed at p-trend<0.05 in stage II of the experiment..
public-library-of-science.
2014
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
public-library-of-science.
2014
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hide from search
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Associations between selected SNPs and breast cancer risk in Caucasians, overall and by ER status (estimated per-allele odds ratios and 95% confidence intervals)1..
public-library-of-science.
2013
List of participating studies and number of Caucasian subjects included in at least one GxE analysis..
public-library-of-science.
2013
Main effects for the epidemiologic variables included in the analyses, derived from population-based studies only1..
public-library-of-science.
2013
Per-allele odds ratios and 95% confidence intervals for SNPs by environmental risk factors of breast cancer showing interaction P-value<10−3, overall and by estrogen receptor status..
public-library-of-science.
2013
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1.
American Journal of Human Genetics.
2013
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nature Genetics.
2013
Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Journal of Clinical Oncology.
2013
Association of haplotypes composed of rs2046210 and rs12662670 with breast cancer..
public-library-of-science.
2012
Association of rs2046210 and rs12662670 with breast cancer..
public-library-of-science.
2012
Association of rs2046210 and rs12662670 with risk of ER−*/ER+** breast cancer..
public-library-of-science.
2012
Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).
public-library-of-science.
2012
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.
public-library-of-science.
2010
Description of affected and unaffected carriers selected for BRCA2 GWAS Stage 1 and 2..
public-library-of-science.
2010
Estimates of breast cancer association for loci (two confirmatory loci at FGFR2 and TOX3, and two novel loci with stage 1 and 2 combined of p<10−4) among BRCA2 mutation carriers in a two-staged genome-wide association study..
public-library-of-science.
2010
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics.
public-library-of-science.
2008
Multivariate Cox proportional hazards analysis of genetic polymorphisms in relation to overall survival following breast cancer diagnosis, by ER status*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by lymph node involvement*..
public-library-of-science.
2008
Odds ratios for breast cancer risk by tumor grade*..
public-library-of-science.
2008
Per-allele odds ratios for breast cancer risk by estrogen receptor status..
public-library-of-science.
2008
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