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List of works by Jan C. Oosterwijk

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Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition

scientific article published in July 2004
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
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article
Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

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

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

scientific article published on 23 October 2017
Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.

scientific article published on 4 March 2010
BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study

scientific article
Inheritance of most X-linked traits is not dominant or recessive, just X-linked

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

scientific article
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

scientific article
Support of the 'fallopian tube hypothesis' in a prospective series of risk-reducing salpingo-oophorectomy specimens.

scientific article published on 21 August 2012
Time to stop ovarian cancer screening in BRCA1/2 mutation carriers?

scientific article published in February 2009
Accuracy of family history of cancer: clinical genetic implications

article published in 2000
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article
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
Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer

scientific article published on 22 June 2006
A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article
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
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
Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012
Hereditary breast cancer growth rates and its impact on screening policy

scientific article
Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined

scientific article published on 28 June 2012
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
The decision evaluation scales

scientific article published on 01 June 2005
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
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

scientific article published on October 1, 2010
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 low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis

scientific article
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017
Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging

scientific article published on 12 August 2013
Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC)

scientific article published on April 17, 2015
The HLA class III subregion is responsible for an increased breast cancer risk

scientific article published on 22 July 2003
Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

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

scientific article
Bone mineral density and fractures after risk-reducing salpingo-oophorectomy in women at increased risk for breast and ovarian cancer.

scientific article published on 18 December 2014
Genetic testing and familial implications in breast-ovarian cancer families

scientific article published on 09 May 2014
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

scientific article
Breast Cancer Incidence After Risk-Reducing Salpingo-Oophorectomy in BRCA1 and BRCA2 Mutation Carriers

scientific article published on 25 September 2012
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

scientific article published on 12 October 2017
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015
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
Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers

scientific article
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
Proven non-carriers in BRCA families have an earlier age of onset of breast cancer.

scientific article published on 13 March 2013
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article
MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial

scientific article published on 17 June 2019
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

scientific article published in May 2015
Breast density as indicator for the use of mammography or MRI to screen women with familial risk for breast cancer (FaMRIsc): a multicentre randomized controlled trial

scientific article

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