Lista de obras -

"It Is What It Is".

artículo científico publicado en 2016

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

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

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Accuracy of family history of cancer: clinical genetic implications

article published in 2000

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

artículo científico publicado en 2019

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

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.

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 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

artículo científico publicado en 2003

BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study

artículo científico publicado en 2010

Benign familial infantile convulsions: a clinical study of seven Dutch families

scientific article published on 01 January 2002

Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy

artículo científico publicado en 2011

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

artículo científico publicado en 2012

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

artículo científico publicado en 2017

CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer

artículo científico publicado en 2015

Cholesterol profile in women with premature menopause after risk reducing salpingo-oophorectomy

artículo científico publicado en 2019

Clinicopathologic characteristics and survival in BRCA1- and BRCA2-related adnexal cancer: are they different?

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk

scientific article published on 30 July 2020

Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

artículo científico publicado en 2020

Genetic control of tumor development in malformation syndromes

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Genetic testing and familial implications in breast-ovarian cancer families

artículo científico

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report

artículo científico publicado en 2005

Hereditary breast cancer growth rates and its impact on screening policy

artículo científico publicado en 2005

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2019

Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population.

artículo científico publicado en 2015

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 ⬇️

artículo científico publicado el 1 de octubre de 2010

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

artículo científico publicado en 2019

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

Model of care for women at increased risk of breast and ovarian cancer

artículo científico publicado en 2011

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

scientific article published on 18 March 2019

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

scientific article published on 01 August 2005

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

artículo científico publicado en 2004

One risk fits all?

scientific article published on 01 August 2007

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.

artículo científico publicado en 2010

Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Risk-reducing mastectomy in BRCA1/2 mutation carriers: factors influencing uptake and timing

artículo científico publicado en 2013

Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

artículo científico publicado en 2016

Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? - A cost-effectiveness analysis

artículo científico publicado en 2019

Stopping ovarian cancer screening in BRCA1/2 mutation carriers: effects on risk management decisions & outcome of risk-reducing salpingo-oophorectomy specimens.

artículo científico publicado en 2014

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

artículo científico

Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC).

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response

artículo científico publicado en 2017

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

artículo científico publicado en 2010

The HLA class III subregion is responsible for an increased breast cancer risk

scientific article published on 22 July 2003

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

artículo científico publicado en 2018

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 decision evaluation scales

scientific article published on 01 June 2005

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.

artículo científico publicado en 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

artículo científico publicado en 2013

The validation of a simulation model incorporating radiation risk for mammography breast cancer screening in women with a hereditary-increased breast cancer risk

scientific article published on 26 November 2009

Time to stop ovarian cancer screening in BRCA1/2 mutation carriers?

artículo científico publicado en 2009

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

artículo científico publicado en 2014

[Genetic testing in patients with cancer; new developments]

scientific article published on 20 May 2019

Eficacia de la resonancia magnética y la mamografía para el cribado del cáncer de mama en mujeres con predisposición familiar o genética.

artículo científico publicado en 2004

Lista de obras de

"It Is What It Is".

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

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

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

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

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

Accuracy of family history of cancer: clinical genetic implications

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

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

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.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

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

BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study

Benign familial infantile convulsions: a clinical study of seven Dutch families

Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers

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

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

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

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

Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy

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

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer

Cholesterol profile in women with premature menopause after risk reducing salpingo-oophorectomy

Clinicopathologic characteristics and survival in BRCA1- and BRCA2-related adnexal cancer: are they different?

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

Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk

Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging

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

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

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

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

Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer

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

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

Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis

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

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

Genetic control of tumor development in malformation syndromes

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

Genetic testing and familial implications in breast-ovarian cancer families

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

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

Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report

Hereditary breast cancer growth rates and its impact on screening policy

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

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

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

Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 ⬇️

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

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

Model of care for women at increased risk of breast and ovarian cancer

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Multiple tumors due to mosaic genome-wide paternal uniparental disomy

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

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

One risk fits all?

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

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

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

Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk

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

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.

Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries.

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

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

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

Rare variants in XRCC2 as breast cancer susceptibility alleles

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

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

Risk-reducing mastectomy in BRCA1/2 mutation carriers: factors influencing uptake and timing

Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? - A cost-effectiveness analysis

Stopping ovarian cancer screening in BRCA1/2 mutation carriers: effects on risk management decisions & outcome of risk-reducing salpingo-oophorectomy specimens.

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

Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC).