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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

International journal of molecular sciences, 2017-01, Vol.18 (2), p.308-308

2017

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

BMC cancer, 2009-06, Vol.9 (1), p.211-211, Article 211

2009

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MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Clinical cancer research, 2012-05, Vol.18 (10), p.2828-2837

2012

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STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

British journal of dermatology (1951), 2022-11, Vol.187 (5), p.820-822

2022

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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

Human mutation, 2017-02, Vol.38 (2), p.226-235

2017

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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

Journal of medical genetics, 2018-01, Vol.55 (1), p.15-20

2018

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A guide for functional analysis of BRCA1 variants of uncertain significance

Human mutation, 2012-11, Vol.33 (11), p.1526-1537

2012

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A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Breast cancer research : BCR, 2013-04, Vol.15 (2), p.R29-R29, Article R29

2013

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Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer‐induced cachexia

Journal of cachexia, sarcopenia and muscle, 2020-12, Vol.11 (6), p.1509-1524

2020

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Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

Familial cancer, 2023-01, Vol.22 (1), p.103-118

2023

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Growth pattern in Kabuki syndrome with a KMT2D mutation

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3172-3179

2016

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Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

Molecular biology reports, 2012-07, Vol.39 (7), p.7429-7433

2012

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Journal of medical genetics, 2015-04, Vol.52 (4), p.224-230

2015

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Patients With an Unclassified Genetic Variant in the BRCA1 or BRCA2 Genes Show Different Clinical Features From Those With a Mutation

Journal of clinical oncology, 2005-04, Vol.23 (10), p.2185-2190

2005

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Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

Oncotarget, 2015-12, Vol.6 (38), p.41108-41122

2015

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Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions

The Journal of molecular diagnostics : JMD, 2024-02, Vol.26 (2), p.150-157

2024

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Clinical cancer research, 2023-08, Vol.29 (16), p.3037-3050

2023

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Diagnostic Value of Monitoring Human Cytomegalovirus Late pp67 mRNA Expression in Renal-Allograft Recipients by Nucleic Acid Sequence-Based Amplification

Journal of Clinical Microbiology, 1998-05, Vol.36 (5), p.1341-1346

1998

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Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions

The Journal of molecular diagnostics : JMD, 2024-02, Vol.26 (2), p.150-157

2024

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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

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

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

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

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

A guide for functional analysis of BRCA1 variants of uncertain significance

Genome sequencing as a generic diagnostic strategy for rare disease

A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer‐induced cachexia

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands – Hebon-CHEK2

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

Growth pattern in Kabuki syndrome with a KMT2D mutation

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Patients With an Unclassified Genetic Variant in the BRCA1 or BRCA2 Genes Show Different Clinical Features From Those With a Mutation

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Diagnostic Value of Monitoring Human Cytomegalovirus Late pp67 mRNA Expression in Renal-Allograft Recipients by Nucleic Acid Sequence-Based Amplification

Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions

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