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Author Details

Christi J van Asperen
Leiden University Medical Center
1989
208
56
PMIDPaper TitleJournal TitlePublished Year
37394722Urinary incontinence more than 15â¿¿years after premenopausal risk-reducing salpingo-oophorectomy: a multicentre cross-sectional study.BJOG2024
37850614Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.J Pathol2024
38061307Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.Breast2024
36307181<i>APC</i> mosaicism, not always isolated: two first-degree relatives with apparently distinct <i>APC</i> mosaicism.Gut2023
36403862Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.Am J Obstet Gynecol2023
36809028High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of <i>BRCA1/2</i> Pathogenic Variants: Prevalence and Clinical Factors.J Clin Oncol2023
36715559Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study.BJOG2023
36137616Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.J Med Genet2023
34320204Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.J Natl Cancer Inst2022
35585550Breast cancer risks associated with missense variants in breast cancer susceptibility genes.Genome Med2022
35508697Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.Clin Genet2022
35361922Recommendations for reporting results of diagnostic genomic testing.Eur J Hum Genet2022
36205748Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
36137114Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study.PLoS One2022
33887476Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.Clin Gastroenterol Hepatol2022
34906479Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genet Med2022
34929424Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.Breast2022
34424271Response to Nahshon and Lavie.J Natl Cancer Inst2022
32880035Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making.J Community Genet2021
33710348Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.J Natl Cancer Inst2021
34312396Evaluation of multiple transcriptomic gene risk signatures in male breast cancer.NPJ Breast Cancer2021
33471991Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.N Engl J Med2021
33480862Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospective Follow-Up (HARMOny Study).JMIR Res Protoc2021
32994281Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.J Med Genet2021
32398771Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.Genet Med2020
31723001Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness.Cancer Res2020
32576986Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.Genet Med2020
32109999Do Preferred Risk Formats Lead to Better Understanding? A Multicenter Controlled Trial on Communicating Familial Breast Cancer Risks Using Different Risk Formats.Patient Prefer Adherence2020
32383162Clustering 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.Int J Cancer2020
30504929A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.Genet Med2019
29988080The functional impact of variants of uncertain significance in BRCA2.Genet Med2019
29846879The 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.Fam Cancer2019
31302855Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.Breast Cancer Res Treat2019
31186341Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-<i>BRCA1/2</i> breast cancer families.J Med Genet2019
31213659Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.Br J Cancer2019
31537406Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.Eur Urol2019
30607672TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.Fam Cancer2019
30629779Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.J Genet Couns2019
30312457Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.J Natl Cancer Inst2019
30414346Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.Int J Cancer2019
28589637Performance of BRCA1/2 mutation prediction models in male breast cancer patients.Clin Genet2018
29937543Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.Br J Cancer2018
29936257Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.J Mol Diagn2018
31360853Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.JNCI Cancer Spectr2018
28490613The <i>BRCA1</i> c. 5096G&gt;A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.J Med Genet2018
29700408E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.Sci Rep2018
29446198Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.Hum Mutat2018
29633761Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.Nat Commun2018
29691126Outcome and Prognostic Impact of Surgical Staging in Serous Tubal Intraepithelial Carcinoma: A Cohort Study and Systematic Review.Clin Oncol (R Coll Radiol)2018
29661971CM-Score: a validated scoring system to predict <i>CDKN2A</i> germline mutations in melanoma families from Northern Europe.J Med Genet2018
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Collaborators

Fergus J Couch
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Douglas F Easton
University of Cambridge
Co-authored papers 52
Javier Ben??tez
Instituto de Salud Carlos III
Co-authored papers 50
Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
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Caroline Seynaeve
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Roger L Milne
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Paul D P Pharoah
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Graham G Giles
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Susan M Domchek
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Jonathan Beesley
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Amanda B Spurdle
QIMR Berghofer Medical Research Institute
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David E Goldgar
University of Utah
Co-authored papers 27
Rosalind A Eeles
The Institute of Cancer Research
Co-authored papers 26
Peter A Fasching
Otto-Friedrich-University Bamberg
Co-authored papers 25
Børge G Nordestgaard
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Janet E Olson
Mayo Clinic
Co-authored papers 24
Stephen J Chanock
National Cancer Institute, National Institutes of Health
Co-authored papers 24
Hoda Anton-Culver
University of California irvine
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Katherine L Nathanson
Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
Co-authored papers 23
Jonine D Figueroa
The Usher Institute, The University of Edinburgh
Co-authored papers 23
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 22
Esther M John
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