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Lista de obras de Hanne Meijers-Heijboer

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

article

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

artículo científico publicado en 2012

A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression

artículo científico publicado en 2016

A genome wide linkage search for breast cancer susceptibility genes

artículo científico publicado en 2006

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

artículo científico publicado en 2006

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 novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

artículo científico publicado en 2016

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

scientific journal article

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics

artículo científico publicado en 2014

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

artículo científico publicado en 2007

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

artículo científico publicado en 1995

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

artículo científico publicado en 2015

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

artículo científico publicado en 2012

Angiotensin II blockade in Marfan's syndrome.

artículo científico publicado en 2008

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

artículo científico publicado en 2004

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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 genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

artículo científico publicado en 2016

Association of rare MSH6 variants with familial breast cancer

artículo científico publicado en 2009

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

artículo científico publicado en 1997

Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies

article

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

artículo científico publicado el 21 de agosto de 2010

Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2001

Breast cancer screening in high-risk women. Rotterdam Committee of Medical and Genetic Counseling

artículo científico publicado en 1999

CHEK2 1100delC and male breast cancer in the Netherlands

artículo científico publicado en 2008

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women

artículo científico publicado en 2011

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

artículo científico publicado en 2009

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

artículo científico publicado en 2004

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

artículo científico publicado en 2014

Centenarian Controls Increase Variant Effect-sizes by an average two-fold in an Extreme Case-Extreme Control Analysis of Alzheimer's Disease

Centenarian controls increase variant effect sizes by an average twofold in an extreme case-extreme control analysis of Alzheimer's disease.

artículo científico publicado en 2018

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy

artículo científico publicado en 2017

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 use of the analysis of the entire genome

artículo científico publicado el 1 de enero de 2011

Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes

artículo científico publicado en 2019

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

artículo científico publicado en 2011

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

Coregulation of FANCA and BRCA1 in human cells

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients

artículo científico publicado en 2007

Early occurrence of red blood cell alloimmunization in patients with sickle cell disease

artículo científico publicado en 2016

Effect of comprehensive oncogenetics training interventions for general practitioners, evaluated at multiple performance levels

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

artículo científico publicado en 2002

Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

artículo científico publicado en 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Extending the p16-Leiden tumour spectrum by respiratory tract tumours

artículo científico publicado en 2004

Familial endometrial cancer in female carriers of MSH6 germline mutations

artículo científico publicado en 1999

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

scientific article published on 01 October 2010

First steps in exploring prospective exome sequencing of consanguineous couples

artículo científico publicado en 2014

Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.

artículo científico publicado en 2011

Genetic susceptibility for breast cancer: how many more genes to be found?

artículo científico publicado en 2007

Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

artículo científico publicado en 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

Genome-wide association study identifies novel breast cancer susceptibility loci

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Genomic landscape of retinoblastoma in Rb-/- p130-/- mice resembles human retinoblastoma

artículo científico publicado en 2016

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

artículo científico publicado en 2015

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

artículo científico publicado en 2020

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

High resolution SNP array profiling identifies variability in retinoblastoma genome stability

scientific article published on 05 November 2013

IVF and retinoblastoma revisited ⬇️

artículo científico publicado el 23 de noviembre de 2011

Identical but not the same: the value of discordant monozygotic twins in genetic research

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

artículo científico publicado en 2020

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

artículo científico publicado en 2016

Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer

artículo científico publicado en 2009

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

artículo científico publicado en 2001

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

artículo científico publicado en 2013

Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study

artículo científico publicado en 2003

Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression

artículo científico publicado en 2015

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

artículo científico publicado en 2002

MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling

artículo científico publicado en 2006

Magnetic resonance imaging of the breast: recommendations from the EUSOMA working group

artículo científico publicado en 2010

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

artículo científico publicado en 2003

Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features

artículo científico publicado en 2001

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

artículo científico publicado en 2013

Mutant BRCA1 alleles transmission: different approaches and different biases

artículo científico publicado en 2005

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

artículo científico publicado en 2018

NPHP4 variants are associated with pleiotropic heart malformations

artículo científico publicado en 2012

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

artículo científico publicado en 2007

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

artículo científico publicado en 2012

PLS3 mutations in X-linked osteoporosis with fractures

artículo científico publicado en 2013

PPIB mutations cause severe osteogenesis imperfecta

artículo científico publicado en 2009

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

artículo científico publicado en 2004

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

artículo científico publicado en 2018

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

artículo científico publicado en 2005

Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients

article

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

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.

artículo científico publicado en 2015

Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic

artículo científico publicado en 2007

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

artículo científico publicado en 2014

RB1 mutations and second primary malignancies after hereditary retinoblastoma ⬇️

artículo científico publicado el 1 de junio de 2012

Rapid detection of BRCA1 mutations by the protein truncation test

artículo científico publicado en 1995

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

Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women

artículo científico publicado en 2006

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families

artículo científico publicado en 2000

Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

artículo científico publicado en 2016

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

artículo científico publicado en 2014

Survival and prognostic factors in BRCA1-associated breast cancer

artículo científico publicado en 2005

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

artículo científico publicado en 2010

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

artículo científico publicado en 2003

The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life

artículo científico publicado en 2017

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

article

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

artículo científico publicado en 2009

The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2

artículo científico publicado en 1996

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

artículo científico publicado en 2004

Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases

artículo científico publicado en 2007

Two TP53 germline mutations in a classical Li-Fraumeni syndrome family

artículo científico publicado en 2007

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

artículo científico publicado en 2016

Use of Genetic Testing and Prophylactic Mastectomy and Oophorectomy in Women With Breast or Ovarian Cancer From Families With a BRCA1 or BRCA2 Mutation ⬇️

artículo científico publicado el 1 de mayo de 2003

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

artículo científico publicado en 2003

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

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

artículo científico publicado en 2005

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

artículo científico publicado en 2013

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

artículo científico publicado en 2013

With expanded carrier screening, founder populations run the risk of being overlooked

artículo científico publicado en 2017

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