Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

(2020) Iben Bache et al.   Blood Cancer Journal

Parental occupational organic dust exposure and selected childhood cancers in Denmark 1968–2016

(2020) Julie Volk et al.   Cancer Epidemiology

The PAF1c Subunit CDC73 Is Required for Mouse Hematopoietic Stem Cell Maintenance but Displays Leukemia-Specific Gene Regulation

(2019) Nirmalya Saha et al.   Stem Cell Reports

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

(2019) Antonella Gambale et al.   CLINICAL GENETICS

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations

(2019) Alexandre Renaux et al.   NUCLEIC ACIDS RESEARCH

Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

(2019) Thorkild Terkelsen et al.   Familial Cancer

Estimated number of adult survivors of childhood cancer in United States with cancer‐predisposing germline variants

(2019) Carmen L. Wilson et al.   PEDIATRIC BLOOD & CANCER

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

(2019) Xin Yang et al.   JOURNAL OF CLINICAL ONCOLOGY

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

(2018) James Whitworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

(2018) Illja J. Diets et al.   CLINICAL CANCER RESEARCH

Trio sequencing in pediatric cancer and clinical implications

(2018) Michaela Kuhlen et al.   EMBO Molecular Medicine

The landscape of genomic alterations across childhood cancers

(2018) Susanne N. Gröbner et al.   NATURE

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

(2018) Birgitte R Diness et al.   GENES CHROMOSOMES & CANCER

Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors

(2018) Catherine Goudie et al.   PEDIATRIC BLOOD & CANCER

Maternal exposure to gasoline and exhaust increases the risk of childhood leukaemia in offspring – a prospective study in the Norwegian Mother and Child Cohort Study

(2018) Jorunn Kirkeleit et al.   BRITISH JOURNAL OF CANCER

Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours

(2018) Sock Hoai Chan et al.   npj Genomic Medicine

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

(2017) Triantafyllia Brozou et al.   EUROPEAN JOURNAL OF PEDIATRICS

The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation

(2017) Catherine Goudie et al.   PEDIATRIC BLOOD & CANCER

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study

(2017) Floor A M Postema et al.   BMJ Open

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

(2017) Fergus J. Couch et al.   JAMA Oncology

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

(2016) Marjolijn C.J. Jongmans et al.   European Journal of Medical Genetics

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

(2016) Marjanka K. Schmidt et al.   JOURNAL OF CLINICAL ONCOLOGY

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

(2016) Anita Villani et al.   LANCET ONCOLOGY

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

(2016) Eric Talevich et al.   PLoS Computational Biology

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

(2016) D. Williams Parsons et al.   JAMA Oncology

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The APC I1307K allele conveys a significant increased risk for cancer

(2015) Ari Leshno et al.   INTERNATIONAL JOURNAL OF CANCER

Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth

(2015) Rajen J. Mody et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Global and disease-associated genetic variation in the human Fanconi anemia gene family

(2014) K. J. Rogers et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

(2010) Monika Morak et al.   EUROPEAN JOURNAL OF CANCER

Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008

(2010) Jacques Ferlay et al.   INTERNATIONAL JOURNAL OF CANCER

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH

(2009) Natalie Jones et al.   GASTROENTEROLOGY

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

(2008) Susanne Magnusson et al.   Familial Cancer