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List of works by Margreet G.E.M. Ausems

'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations

scientific article published on 26 November 2019

12 Years of prospective pancreatic cancer surveillance: Results of the Dutch nationwide program in high-risk individuals

scholarly article

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

article

A literature review of the psychological impact of genetic testing on breast cancer patients

scientific article

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 pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling

scientific article published on 01 March 2012

A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial

scientific article published on 12 January 2012

A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients

scientific article published on 01 July 2005

A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale

scientific article published on 25 January 2019

Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer

scientific article published on 30 November 2012

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

scientific article

Am I My Family's Keeper? Disclosure Dilemmas in Next-Generation Sequencing

scientific article published on 20 September 2016

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

scientific article

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

scientific article published on 30 July 2009

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

scientific article published on August 2012

BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy

scientific article published on 03 August 2007

Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer

scientific article published on November 2007

Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial

scientific article

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

Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact.

scientific article published on 28 April 2012

Breast cancer genetic counselling referrals: how comparable are the findings between the UK and the Netherlands?

scientific article published on 18 August 2011

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

scientific article

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

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

scientific article published on 23 October 2011

Cancer genetic counseling: communication and counselees' post-visit satisfaction, cognitions, anxiety, and needs fulfillment.

scientific article published on 13 February 2007

Cancer patients' intentions towards receiving unsolicited genetic information obtained using next-generation sequencing

scientific article published on 29 August 2017

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

scientific article published on 25 September 2008

Clinical expression of Menkes disease in females with normal karyotype.

scientific article published on 22 January 2012

Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

scientific article published on 27 April 2020

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

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

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

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

scientific article

Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

scientific article

Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation

scientific article published on 12 August 2009

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 26 February 2020

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

scientific article published on 30 July 2020

Counselee participation in follow-up breast cancer genetic counselling visits and associations with achievement of the preferred role, cognitive outcomes, risk perception alignment and perceived personal control

scientific article published on 06 July 2014

Counselees' Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence

scientific article

Development of E-Info Geneca: A Website Providing Computer-Tailored Information and Question Prompt Prior to Breast Cancer Genetic Counseling

scientific article published on 14 May 2009

Distress in couples approached for genetic counseling and BRCA1/2 testing during adjuvant radiotherapy

scientific article published in September 2009

Does and should breast cancer genetic counselling include lifestyle advice?

scientific article published in March 2014

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

scientific article published on 23 April 2015

Early recognition of basal cell naevus syndrome

scientific article published on 10 December 2004

Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial

scientific article

Effects of a pre-visit educational website on information recall and needs fulfilment in breast cancer genetic counselling, a randomized controlled trial

scientific article

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

scientific article published in 2022

Ethical considerations for modern molecular pathology

scholarly article by Shoko Vos et al published 20 August 2018 in Journal of Pathology

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

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

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

scientific article

Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance

scientific article published on 14 September 2016

Familial versus Sporadic Breast Cancer: Different Treatments for Similar Tumors?

scientific article published in 2015

Follow-up effects of a tailored pre-counseling website with question prompt in breast cancer genetic counseling

scientific article published on 17 October 2014

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

scientific article published on 29 March 2006

Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting

scientific article published in 2023

Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences

scientific article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genotype-phenotype correlation in adult-onset acid maltase deficiency

article

HIF-1α overexpression in ductal carcinoma in situ of the breast in 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

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

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

scientific article published on 23 October 2017

Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis

scientific article published on 8 July 2014

Increased prevalence of Barrett's esophagus in patients with MUTYH-associated polyposis (MAP)

scientific article published on 01 April 2020

Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences

scientific article published on 01 August 2005

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

scientific article published on 16 September 2019

Is It Our Duty To Hunt for Pathogenic Mutations?

scientific article published on 12 December 2017

Lessons learned from setting up a prospective, longitudinal, multicenter study with women at high risk for breast cancer

scientific article published on 20 October 2020

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

scientific article

Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women

scientific article published on 12 February 2011

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

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

Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer

scientific article published in February 2004

Nonverbal communication and conversational contribution in breast cancer genetic counseling: are counselors' nonverbal communication and conversational contribution associated with counselees' satisfaction, needs fulfillment and state anxiety in bre

scientific article published on 18 June 2013

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

Ovarian cancer in BRCA-positive women: vigilance is mandatory despite screening programs

scientific article published on 01 March 2002

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

scientific article published on 01 May 2018

Pancreatic ductal adenocarcinoma in hereditary diffuse gastric cancer. A case report ⬇️

scientific article published on October 10, 2011

Patients' and Health Care Providers' Opinions on a Supportive Health App During Breast Cancer Treatment: A Qualitative Evaluation.

scientific article published on 7 June 2016

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

scientific article published on 13 August 2009

Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer

scientific article published on 01 April 2020

Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer

scientific article published on 11 November 2016

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

scientific article

QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.

scientific article published in May 2005

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

scientific article published in May 2010

Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making

scientific article published on 13 July 2017

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

scientific article

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 communication in completed series of breast cancer genetic counseling visits

scientific article published on 01 November 2006

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 16 January 2020

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

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

scientific article published on 5 October 2016

Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer

scientific article published on 01 September 2006

Successful oxytocin-assisted nipple aspiration in women at increased risk for breast cancer

scientific article

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

scientific article published on 13 July 2019

Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients

scientific article published on 22 April 2020

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

Tailored information about cancer risk and screening: a systematic review

scientific article published on 18 April 2009

Tailoring communication in cancer genetic counseling through individual video-supported feedback: A controlled pretest–posttest design

scientific article published on 15 July 2005

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

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype

scientific article published on 17 February 2009

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 effect of personal medical history and family history of cancer on the uptake of risk-reducing salpingo-oophorectomy

scientific article

The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument

scientific article published in April 2006

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

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Use and Evaluation of an Individually Tailored Website for Counselees Prior to Breast Cancer Genetic Counseling

scientific article published on 01 December 2011

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

scientific article

[Genetic testing in patients with cancer; new developments]

scientific article published on 20 May 2019

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