Janneke Schuurs-Hoeijmakers
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View article: Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency Open
Human OTULIN haploinsufficiency predisposes to life-threatening necrosis of the skin and lungs. Disease is triggered by infectious agents, typically Staphylococcus aureus, as well as unknown etiologies. We describe and characterize six unr…
View article: Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study
Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study Open
View article: The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS) Open
This study demonstrated that PHTS patients have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potenti…
View article: Deep Phenotyping of Pathology‐Confirmed Benign Lesions in <scp>PTEN</scp> Hamartoma Tumor Syndrome Patients
Deep Phenotyping of Pathology‐Confirmed Benign Lesions in <span>PTEN</span> Hamartoma Tumor Syndrome Patients Open
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare hereditary syndrome. PHTS has a variable phenotype characterized by benign lesions and increased cancer risks. Clarifying the extent of the benign phenotype could facilitate early recognition …
View article: Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project
Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project Open
Background Individuals with rare tumour risk syndromes (RTRS) navigate complex care pathways, including early diagnosis, monitoring, and tailored treatments, all requiring shared decision-making with their clinical team. Nevertheless, beha…
View article: Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk Open
View article: Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes Open
The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment of a genetic diagnosis…
View article: Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis Open
View article: Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome
Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome Open
Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 (4.65%) PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children with PHTS from at least age 12,…
View article: Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome Open
There are indications for immune dysregulation in PTEN Hamartoma Tumour Syndrome (PHTS), however information on the clinical immune phenotype is lacking. We aimed to assess the frequency of infections and autoimmune disease in PHTS patient…
View article: Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis Open
While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use of exome sequencing is still emerging. We performed a cohort level meta-analysis by revisiting clinical exome d…
View article: Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study
Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study Open
PTEN hamartoma tumor syndrome (PHTS) has a broad clinical spectrum including various benign and malignant tumors at varying age of diagnosis. Many patients remain unrecognized, unaware of their increased cancer risk. We aimed to describe t…
View article: The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency Open
CHEK2 is considered to be involved in homologous recombination repair (HRR). Individuals who have germline pathogenic variants (gPVs) in CHEK2 are at increased risk to develop breast cancer and likely other primary cancers. PARP inhibitors…
View article: Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome
Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome Open
Dental professionals are ideally placed to recognise oral features and initiate early assessment of PHTS which could significantly improve patient outcomes.
View article: Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome Open
View article: Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS) Open
Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in European female adult PHTS patients. Data were collected via patient questionnair…
View article: Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability Open
View article: The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 Open
View article: PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders Open
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDD) is not well understood, while these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of N…
View article: Heterozygous OTULIN-variant related fasciitis and skin necrosis treated by TNF inhibition.
Heterozygous OTULIN-variant related fasciitis and skin necrosis treated by TNF inhibition. Open
Here we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygozity. OTULIN is a cellular regulator of deubiquitination that has been shown to …
View article: PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Open
View article: PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation Open
While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, and SIFT) have focused on molecular details to evaluate pathogenicity — omitting phenotypic features. To unlock t…
View article: Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort Open
View article: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study Open
Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential ad…
View article: Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome Open
Background PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current ris…
View article: 1391P Tumor-first mutation-specific risk approach to trigger germline testing in castration-resistant prostate cancer
1391P Tumor-first mutation-specific risk approach to trigger germline testing in castration-resistant prostate cancer Open
View article: Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study Open
Article Figures and data Abstract Editor's evaluation Introduction Materials and methods Results Discussion Data availability References Decision letter Author response Article and author information Metrics Abstract Background: De novo va…
View article: Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome Open
Basal cell nevus syndrome (BCNS) is a rare genetic disorder accompanied by a broad variety of tumours, of which basal cell carcinomas and odontogenic keratocysts are the most common. BCNS is caused by a germline or postzygotic mutation in …
View article: Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review
Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review Open
PTEN germline variants cause PTEN Hamartoma Tumour Syndrome (PHTS). Of individuals fulfilling diagnostic criteria, 41-88% test negative for PTEN germline variants, while mosaicism could be an explanation. Here we describe two individuals w…
View article: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study Open
Background D e novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods This study explored the potential add…