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List of works by Christi J. van Asperen

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

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

scientific article published on 10 February 2009

A counselee-oriented perspective on risk communication in genetic counseling: Explaining the inaccuracy of the counseleesʼ risk perception shortly after BRCA1/2 test result disclosure

scientific article published on 01 September 2011

A distinct phenotype characterizes tumors from a putative genetic trait involving chondrosarcoma and breast cancer occurring in the same patient

scientific article published on February 2004

A family history of breast cancer will not predict female early onset breast cancer in a population-based setting

scientific article

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome

scientific article published on 03 December 2018

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

scientific article published on 06 February 2009

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships

scientific article published on April 2007

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

scientific article published on 29 June 2009

A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives

scientific article

AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme.

scientific article published in September 2017

Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families

scientific article published on 11 June 2019

Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10 ⬇️

scientific article published on July 18, 2011

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

scientific article published on 13 May 2020

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

scientific article published on 29 September 2020

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

scientific article

Body weight and risk of breast cancer in BRCA1/2 mutation carriers ⬇️

scientific article published on August 21, 2010

Breast Cancer Susceptibility—Towards Individualised Risk Prediction

scholarly article

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

scientific article published on 27 November 2013

Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction

scientific article published on 18 March 2015

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer

scientific article published on 08 May 2013

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

scientific article published on 16 April 2018

Cancer genetics service provision: a comparison of seven European centres

scientific article published in January 2003

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities

scientific article published on 03 December 2013

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

scientific article published in September 2005

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

scientific article

Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer

article by Sandra van Dijk et al published August 2006 in Journal of Clinical Oncology

Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases

scientific article

Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer

scientific article published on 07 May 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

scientific article published on 20 July 2016

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

scientific article published on 24 June 2020

Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

scientific article published on 4 November 2016

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

scientific article

Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose?

scientific article published on 30 May 2008

Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

scientific article published on October 2009

Do BRCA1/2 mutation carriers have an earlier onset of natural menopause?

scientific article published on 20 June 2016

Do Preferred Risk Formats Lead to Better Understanding? A Multicenter Controlled Trial on Communicating Familial Breast Cancer Risks Using Different Risk Formats

scientific article published on 19 February 2020

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.

scientific article published on 26 April 2018

Effectiveness and cost-effectiveness of meaning-centered group psychotherapy in cancer survivors: protocol of a randomized controlled trial

scientific article published on 28 January 2014

Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study

scientific article published in 2022

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

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

scientific article

Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling

scientific article

Exploring the short-term impact of DNA-testing in breast cancer patients: the counselees' perception matters, but the actual BRCA1/2 result does not.

scientific article published on 27 December 2011

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

scientific article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Familial breast cancer: is it time to move from a reactive to a proactive role?

scientific article published on September 2011

Family communication matters: the impact of telling relatives about unclassified variants and uninformative DNA-test results

scientific article published in April 2011

Feeling at risk: How women interpret their familial breast cancer risk

article by Sandra van Dijk et al published 15 November 2004 in American Journal of Medical Genetics Part A

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 Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.

scientific article

General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles

scientific article

Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment

scientific article published on 09 July 2012

Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment

scientific article published on June 2003

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

scientific article

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 study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

scientific article published in November 2008

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

Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

scientific article published on 06 September 2019

Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

scientific article published in June 2017

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

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

Homozygosity for aCHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype

scientific article published on 01 June 2005

How women with a family history of breast cancer and their general practitioners act on genetic advice in general practice: prospective longitudinal study

scientific article published on January 2001

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

scientific article

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

scientific article published on 23 October 2017

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

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

scientific article published on 16 September 2019

International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom

scientific article

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

scientific article published on 01 January 2009

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

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

scientific article

Little value from including cousins in individual risk assessment of hereditary breast cancer: a simulation study

scientific article published in March 2003

Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers

scientific article published in August 2024

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

MUTYH gene variants and breast cancer in a Dutch case–control study

scientific article

Male breast cancer precursor lesions: analysis of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program

scientific article published on 13 January 2017

Meaning-centered group psychotherapy in cancer survivors: a feasibility study

scientific article published on 6 February 2014

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

MicroRNA related polymorphisms and breast cancer risk

scientific article

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

article

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

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

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

scientific article published on 29 March 2009

Next-generation diagnostics: gene panel, exome, or whole genome?

scientific article published on 17 April 2015

Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making

scientific article published on 21 December 2018

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

scientific article

Optimal age to start preventive measures in women withBRCA1/2mutations or high familial breast cancer risk

scientific article published on 13 February 2013

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

scientific article published on 01 April 2018

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

scientific article published on 01 May 2018

Pathological characterisation of male breast cancer: Results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program

scientific article published on 11 March 2017

Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results

scientific article published on 28 November 2010

Performance of BRCA1/2 mutation prediction models in male breast cancer patients.

scientific article published on 06 June 2017

Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers

scientific article published on 13 August 2009

Possible consequences of applying guidelines to healthy women with a family history of breast cancer

scientific article published in August 2003

Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort

scientific article published on 01 March 2007

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

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

scientific article published on 8 April 2015

Prognostic factors for hereditary cancer distress six months after BRCA1/2 or HNPCC genetic susceptibility testing

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

scientific article published on 4 January 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

scientific article

Psychological factors associated with the intention to choose for risk-reducing mastectomy in family cancer clinic attendees

scientific article published on 14 September 2016

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

scientific article published on 10 April 2018

Putting it all behind: long-term psychological impact of an inconclusive DNA test result for breast cancer

scientific article published in October 2008

Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012

Recommendations for reporting results of diagnostic genomic testing

scientific article published in 2022

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

Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years: a national cohort study

scientific article published on 20 May 2014

Remarks on the BOADICEA model of genetic susceptibility to breast and ovarian cancer

scientific article published in April 2005

Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

scientific article published on 02 September 2020

Risk estimation for healthy women from breast cancer families: new insights and new strategies

scientific article published on 01 January 2004

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers

scientific article published on August 2005

Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers

scientific article published on 15 April 2008

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

scientific article published on 13 July 2019

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

scientific article published on 01 June 2010

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

scientific article

Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

scientific article published on 14 September 2010

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 CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families

scientific article published on 01 December 2003

The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

article

The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study

article

The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters

article by Joël Vos et al published 27 June 2012 in Psycho-Oncology

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.

scientific article published on August 2008

The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study.

scientific article published in January 2019

The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial

scientific article

The functional impact of variants of uncertain significance in BRCA2

scientific article published on 10 July 2018

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

scientific article published on 12 September 2013

The requirements of a specialist Breast Centre.

scientific article published on 19 August 2013

The role of the prostate cancer gene 3 urine test in addition to serum prostate-specific antigen level in prostate cancer screening among breast cancer, early-onset gene mutation carriers

scientific article published on 5 March 2015

Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study

scientific article

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

scientific article published on 01 March 2020

Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant

scientific article

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

scientific article published on 01 May 2005

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

scientific article published on 11 July 2022

Urologists' and GPs' knowledge of hereditary prostate cancer is suboptimal for prostate cancer counseling: a nation-wide survey in The Netherlands

scientific article

Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue

scientific article published on 21 June 2018

Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists

scientific article

Value-based healthcare in Lynch syndrome

scientific article published in June 2013

Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message

scientific article published on 01 January 2004

Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling

scientific article published on 11 December 2012

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands

scientific article

What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer

scientific article published in April 2005

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

scientific article

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