Jette J. Bakhuizen
YOU?
Author Swipe
View article: A multi-dimensional approach to recognize genetic predisposition in children with acute lymphoblastic leukemia
A multi-dimensional approach to recognize genetic predisposition in children with acute lymphoblastic leukemia Open
View article: DICER1 Syndrome: What Do We Know of the Pathogenetic Mechanisms?
DICER1 Syndrome: What Do We Know of the Pathogenetic Mechanisms? Open
DICER1 syndrome is a hereditary cancer predisposition syndrome, characterized by a large range of benign and malignant neoplasms. Patients with DICER1 syndrome have a broad phenotype, with pleuropulmonary blastoma, Sertoli–Leydig cell tumo…
View article: Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies Open
View article: Corrigendum to “Implementation of paediatric precision oncology into clinical practice: The individualized therapies for children with cancer program ‘iTHER’” [Eur J Cancer 175 (2022) 311–325]
Corrigendum to “Implementation of paediatric precision oncology into clinical practice: The individualized therapies for children with cancer program ‘iTHER’” [Eur J Cancer 175 (2022) 311–325] Open
View article: Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer Open
Germline sequencing of children with cancer is generally well received by their parents. However, careful genetic counseling is essential to ensure that parents are adequately informed and supported throughout the process.
View article: Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022
Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 Open
View article: Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study Open
This study explored the experiences and needs of adolescents, ranging from 12 to 18 years old, who have recently been diagnosed with cancer and participated in a nationwide germline genetic sequencing study within the context of pediatric …
View article: Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations Open
Lynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants in a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting a causal relat…
View article: No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation Open
View article: Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm Open
Importance To improve diagnostics of cancer predisposition syndromes (CPSs) in children with cancer, it is essential to evaluate the effect of CPS gene sequencing among all children with cancer and compare it with genetic testing based on …
View article: Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’ Open
View article: Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group Open
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance, and apprai…
View article: Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel Open
View article: TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort Open
View article: Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals Open