Cited by 1,345BRCA gene mutations in cancerCancer Genomics and DiagnosticsGenomics and Rare Diseases

The DOI matches its Crossref record; 54 of the 56 references it cites were found in a registry or an index.

Germline Mutations in Predisposition Genes in Pediatric Cancer

Open access

Zhang, Jinghui, Walsh, Michael F., Wu, Gang, Edmonson, Michael N., Gruber, Tanja A., Easton, John, Hedges, Dale, Ma, Xiaotu, Zhou, Xin, Yergeau, Donald A., Wilkinson, Mark R., Vadodaria, Bhavin, Chen, Xiang, McGee, Rose B., Hines-Dowell, Stacy, Nuccio, Regina, Quinn, Emily, Shurtleff, Sheila A., Rusch, Michael, Patel, Aman, Becksfort, Jared B., Wang, Shuoguo, Weaver, Meaghann S., Ding, Li, Mardis, Elaine R., Wilson, Richard K., Gajjar, Amar, Ellison, David W., Pappo, Alberto S., Pui, Ching-Hon, Nichols, Kim E., Downing, James R.·2015·New England Journal of Medicine

DOI 10.1056/nejmoa1508054PMC PMC4734119

Open this paper in CoChat — free account Open PDF

Abstract

BACKGROUND: The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families. METHODS: In 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole exomes (in 456), or both (in 69). We analyzed the DNA sequences of 565 genes, including 60 that have been associated with autosomal dominant cancer-predisposition syndromes, for the presence of germline mutations. The pathogenicity of the mutations was determined by a panel of medical experts with the use of cancer-specific and locus-specific genetic databases, the medical literature, computational predictions, and second hits identified in the tumor genome. The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approach was used to analyze data from an autism study (from 515 persons with autism and 208 persons without autism). RESULTS: Mutations that were deemed to be pathogenic or probably pathogenic were identified in 95 patients with cancer (8.5%), as compared with 1.1% of the persons in the 1000 Genomes Project and 0.6% of the participants in the autism study. The most commonly mutated genes in the affected patients were TP53 (in 50 patients), APC (in 6), BRCA2 (in 6), NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3). A total of 18 additional patients had protein-truncating mutations in tumor-suppressor genes. Of the 58 patients with a predisposing mutation and available information on family history, 23 (40%) had a family history of cancer. CONCLUSIONS: Germline mutations in cancer-predisposing genes were identified in 8.5% of the children and adolescents with cancer. Family history did not predict the presence of an underlying predisposition syndrome in most patients. (Funded by the American Lebanese Syrian Associated Charities and the National Cancer Institute.).

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1056/nejmoa1508054

Cites

54 of 54 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
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
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069
Mutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Identification of the breast cancer susceptibility gene BRCA2
Wooster, R., Bignell, G. R., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S. G., Gumbs, C. E., Micklem, G., et al. (1995) · Nature · doi:10.1038/378789a0 · Cited by 3,645
A census of human cancer genes
Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1299 · Cited by 3,184
Enhancements and modifications of primer design program Primer3
Kõressaar, T., & Remm, M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm091 · Cited by 2,618
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,544
Principles and Practice of Pediatric Oncology
(1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-112-8-636_3 · Cited by 2,034
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596
Self-citation

Flagged first, then by citations

Show all 56 references

2 of the 56 references couldn’t be matched to a known paper.

Research works printed but not linked: 3

Lindor NM, 2008, J Natl Cancer Inst Monogr, 1
Meldrum C, 2011, Clin Biochem Rev, 32, 177
Armes JE, 1999, Cancer Res, 59, 2011

Sorted by citations

Items 901–1,000 of 1,000

Pediatric, adolescent, and young adult breast and reproductive tumors
Harris, C. J., Rowell, E. E., Jayasinghe, Y., Cost, C. R., Childress, K. J., Frederick, N. N., McNally, O., Appiah, L. A., & Anazodo, A. C. (2022) · Pediatric Blood & Cancer · doi:10.1002/pbc.29422 · Cited by 2
Case report: Somatic mutations in microtubule dynamics-associated genes in patients with WNT-medulloblastoma tumors
Skitchenko, R. K., Dinikina, Y. V., Smirnov, S., Krapivin, M., Smirnova, А. Y., Morgacheva, D. A., & Artomov, M. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2022.1085947 · Cited by 2
Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
Brozou, T., Yasin, L., Brandes, D., Picard, D. J., Walter, C., Varghese, J., Dugas, M., Fischer, U., Borkhardt, A., & Haas, O. A. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2022.1080347 · Cited by 2
A case of high‐risk neuroblastoma in a child with CLOVES syndrome
Girgis, M., & Benedetti, D. J. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30393 · Cited by 2
A novel mobile health application to support cancer surveillance needs of patients and families with cancer predisposition syndromes
Alvarez, S. J. A., Pencheva, B., Westfall, E., Mwalija, C., Parsell, M., Greenleaf, M. N., Porter, C. C., Lam, W. A., Mannino, R. G., & Mitchell, S. G. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30537 · Cited by 2
A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion‐positive rhabdomyosarcoma
Freyçon, C., Lupo, P. J., Witkowski, L., Budd, C., Foulkes, W. D., & Goudie, C. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30651 · Cited by 2
Rhabdomyosarcoma of The Uterine Cervix: Case Report and Literature Review
Nurseta, T., & Widowati, A. R. (2022) · Asian Journal of Health Research · doi:10.55561/ajhr.v2i2.118 · Cited by 2
Novel KMT2B gene mutation in MUC4 positive low-grade fibromyxoid sarcoma
Zhang, L., Luo, L., Liu, C., & Li, Z. (2024) · Diagnostic Pathology · doi:10.1186/s13000-024-01458-5 · Cited by 2
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing
Newman, H. M., Clark, M. E., Wong, D., Wu, J., Brodeur, G. M., Hunger, S. P., Tasian, S. K., Olson, T. S., Warren, J. T., Teachey, D. T., et al. (2024) · Haematologica · doi:10.3324/haematol.2023.284855 · Cited by 2
Case report: Therapy-related myeloid neoplasms in three pediatric cases with medulloblastoma
Mak, L. S., Li, X., Chan, W. Y. K., Leung, A. W. K., Cheuk, D. K., Yuen, L. Y. P., So, J. C. C., Ha, S., & Liu, A. P. Y. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2024.1364199 · Cited by 2
Clinical presentation and treatment of four children with pulmonary mucoepidermoid carcinoma
Yang, Y., Wang, Q., Pan, Z., Li, H., An, Y., & Wu, C. (2024) · Therapeutic Advances in Respiratory Disease · doi:10.1177/17534666241258679 · Cited by 2
Screening and interventional strategies for the late effects and toxicities of hematological malignancy treatments in pediatric survivors
Sakashita, K., Komori, K., Morokawa, H., & Kurata, T. (2024) · Expert Review of Hematology · doi:10.1080/17474086.2024.2370559 · Cited by 2
Molecular pathophysiology of germline mutations in acute myeloid leukemia
Nagata, Y. (2024) · International Journal of Hematology · doi:10.1007/s12185-024-03824-x · Cited by 2
Cancer Predisposition Syndromes in Children: Who, How, and When Should Genetic Studies Be Considered?
Camacho‐Arias, M., Villa, M., de Andres, S. Á., Rivera, B., Vázquez, P., Letón, P., Martín‐López, L. I., Osuna‐Marco, M. P., & López‐Ibor, B. (2024) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002932 · Cited by 2
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect
Baldo, G. D., Mastronuzzi, A., Cipri, S., Agolini, E., Matraxia, M., Novelli, A., Cacchione, A., Serra, A., Carai, A., Boccuto, L., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-71667-x · Cited by 2
Mycovirus-Containing Aspergillus flavus Alters Transcription Factors in Normal and Acute Lymphoblastic Leukemia Cells
Tebbi, C. K., Yan, J., Sahakian, E., Mediavilla-Varela, M., Pinilla-Ibarz, J. A., Patel, S. J., Rottinghaus, G. E., Liu, R. Y., & Dennison, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251910361 · Cited by 2
Perceptions and attitudes about the contribution of the environment to childhood cancer: a pilot study in a medical guild and undergraduate students
Jarquín‐Yáñez, L., Cruz, E. T., Martinez-Acuña, M. I., & Calderón, J. (2024) · BMC Medical Education · doi:10.1186/s12909-024-05914-0 · Cited by 2
Multiple primary tumors in a patient with non‑small‑cell lung cancer harboring mutations in ERCC6 and LYL1: A case report
Wu, H., Jiang, Y., He, M., Xu, X., & Jiang, H. (2024) · Oncology Letters · doi:10.3892/ol.2024.14809 · Cited by 2
Inherited genome instability
Hehir‐Kwa, J. Y., & Macintyre, G. (2025) · Science · doi:10.1126/science.adu6125 · Cited by 2
Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways
Kim, J. W. (2025) · Journal of Korean Neurosurgical Society · doi:10.3340/jkns.2025.0011 · Cited by 2
High Mobility Group A1 Chromatin Keys: Unlocking the Genome During MPN Progression
Resar, L. M. S., & Luo, L. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26052125 · Cited by 2
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
Rigotti, L., Rebellato, S., Lettieri, A., Castiglioni, S., Mariani, M., Totaro, S., Saitta, C., Gervasini, C., Fazio, G., Massa, V., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64076 · Cited by 2
Damage-associated molecular patterns as metabolic regulators of innate immunity
Ryan, T. A. J., Zanoni, I., & Gioia, M. D. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-15447-8.00007-6 · Cited by 2
ANKRD26-related thrombocytopenia 2 with a baseline increase in blasts: implications for clinical surveillance
Wahlster, L., Godley, L. A., Cheng, J. X., Drazer, M. W., Reilly, C. R., Pinkus, G. S., Rowe, J. H., Weichert‐Leahey, N., Rowe, R. G., Gorfinkel, L., et al. (2025) · Blood · doi:10.1182/blood.2024027368 · Cited by 2
Parental perspectives on the use of tumor molecular profiling and germline genetic testing during their children's cancer treatment
Sleiman, M. M., Statman, M. R., Yockel, M. R., Wu, Y. P., Hamilton, J. G., Kohlmann, W. K., Vagher, J., Feola, S., Maese, L. D., Chen, J., et al. (2025) · Familial Cancer · doi:10.1007/s10689-025-00488-2 · Cited by 2
Advancing Precision Medicine
Zalli, D., Mai, Z., Ferati, E., Ramaj, A., Bregu, R., & Pranjol, M. Z. I. (2025) · Springer eBooks · doi:10.1007/978-3-032-00773-5_413 · Cited by 2
Incidence rates and trends of paediatric cancer in Italy, 2008–2017
Santelli, E., Gatta, G., Savoia, F., Fabiano, S., Cuccaro, F., Perotti, V., Tittarelli, A., Scuderi, T., Amodio, R., Mazzucco, W., et al. (2025) · Cancer Epidemiology · doi:10.1016/j.canep.2025.102947 · Cited by 2
Managing Germline Findings from Molecular Testing in Precision Oncology
Everett, J. N., & Raymond, V. M. (2019) · Springer eBooks · doi:10.1007/978-3-030-23637-3_8 · Cited by 2
Genetic control of tumor development in malformation syndromes
Postema, F. A. M., Oosterwijk, J. C., & Hennekam, R. C. M. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61947 · Cited by 2
Pediatric Germline Predisposition to Myeloid Neoplasms
Thompson, C., Ariagno, S. N., & Kohorst, M. A. (2022) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-022-00681-5 · Cited by 2
Discovery and Characterization of Cancer Genetic Susceptibility Alleles
Chanock, S. J., & Ostrander, E. A. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-2865-7.00022-9 · Cited by 2
Are sarcomas hereditary?
Benjamin, R. S., & Futreal, P. A. (2016) · The Lancet Oncology · doi:10.1016/s1470-2045(16)30292-3 · Cited by 2
The new challenge in oncology: Next-generation sequencing and its application in precision medicine
Calabria, I., Pedrola, L., Berlanga, P., Aparisi, M. J., Sánchez-Izquierdo, D., Cañete, A., Cervera, J., Millán, J. M., & Castel, V. (2016) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2016.05.002 · Cited by 2
Carcinomes des adolescents et jeunes adultes : quelles spécificités ?
Fresneau, B. C., Dourthe, M.-É., Jouin, A., Laurence, V., de Lambert, G., Colas, C., Coret, M., Laprie, A., Rebours, C., Orbach, D. H., et al. (2016) · Bulletin du Cancer · doi:10.1016/j.bulcan.2016.11.013 · Cited by 2
Prédispositions génétiques en oncologie pédiatrique
Bourdeaut, F., & Coupier, I. (2016) · ONCOLOGIE · doi:10.1007/s10269-016-2672-y · Cited by 2
THE GORDON WILSON LECTURE EVOLUTION OF CLINICAL CANCER GENETICS.
Garber, J. E. (2016) · PubMed Central · Cited by 2
Genetic predisposition to childhood cancer
Salas, P. C., Lapunzina, P. D., & Pérez‐Martínez, A. (2017) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2017.01.003 · Cited by 2
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?
Kuhlen, M., Taeubner, J., Wieczorek, D., & Borkhardt, A. (2017) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-017-0075-9 · Cited by 2
Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations
Sengupta, S., Weyand, A. C., Upadhyaya, S. A., Wu, Y., Robinson, D. R., & Mody, R. J. (2018) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000001122 · Cited by 2
Linking population‐based registries to identify familial cancer risk in childhood cancer
Madanat‐Harjuoja, L. M., Pitkäniemi, J. M., Hirvonen, E. M., Malila, N. K., & Diller, L. (2020) · Cancer · doi:10.1002/cncr.32882 · Cited by 2
Precision Oncology
Liebers, M. R. (2020) · Royal Society of Chemistry eBooks · doi:10.1039/9781788019958-00345 · Cited by 2
Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population
Aslam, S., Shabana, S., & Ahmed, M. (2021) · BMC Pediatrics · doi:10.1186/s12887-021-02749-2 · Cited by 2
Molecular Alterations in Pediatric Solid Tumors
Slack, J. C., & Church, A. J. (2021) · Surgical pathology clinics · doi:10.1016/j.path.2021.05.010 · Cited by 2
Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents
Wagener, R., Walter, C., Surowy, H., Brandes, D., Soura, S., Alzoubi, D., Yasin, L., Fischer, U., Dugas, M., Borkhardt, A., et al. (2022) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002475 · Cited by 2
Unraveling the genetic and singaling landscapes of pediatric cancer
Manjunath, G. K., Ankam, K. V., Dakal, T. C., Sharma, M. V. S., Nashier, D., Mitra, T., & Kumar, A. (2024) · Pathology - Research and Practice · doi:10.1016/j.prp.2024.155635 · Cited by 2
Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma
Ortiz, M. V., Magnan, H., Slotkin, E. K., Ambati, S. R., Chou, A. J., Wexler, L. H., Meyers, P. A., Walsh, M. F., Heaton, T. E., Girardi, L. N., et al. (2017) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000000754 · Cited by 2
Self-citation
Clinical Manifestations and Treatment of Childhood Acute Lymphoblastic Leukemia
Jeha, S., & Pui, C. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-35762-3.00065-2 · Cited by 2
Self-citation
Mothers' Decisions About Donating Newborns' Blood Spots for Research
Eisenhauer, E. R., Tait, A. R., Low, L. K., & Arslanian‐Engoren, C. (2019) · The Journal of Perinatal & Neonatal Nursing · doi:10.1097/jpn.0000000000000412 · Cited by 3
Interdisciplinary data bank in oncoendocrinology. Medullary thyroid cancer and type 2 multiple endocrine neoplasia syndromes
Rumyantsev, P. O., Slashchuk, K. Y., Korenev, S. V., Гончаров, А. Г., Beltsevich, D. G., & Chukhacheva, O. S. (2020) · Endocrine Surgery · doi:10.14341/serg11270 · Cited by 2
Parental attitudes regarding the need for genetic services in a pediatric brain tumor survivorship program
Zalan, A., Maga, T., Perpich, M., Smiley, N. P., & McQuaid, S. W. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1339 · Cited by 2
Pan-Cancer Analysis Reveals Technical Artifacts in TCGA Germline Variant CallsPreprint
Buckley, A. R., Standish, K. A., Bhutani, K., Ideker, T. E., Carter, H., Harismendy, O., & Schork, N. J. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/092163 · Cited by 2
Discovery and reporting of clinically-relevant germline variants in advanced cancer patients assessed using whole-exome sequencingPreprint
Zhang, T., Romanel, A., Eng, K., Rennert, H., Tan, A. Y., Xue, Y., Cyrta, J., Mosquera, J. M., Sboner, A., Iossifov, I. H., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/112672 · Cited by 2
Enabling population assignment from cancer genomes with SNP2popPreprint
Huang, Q., & Baudis, M. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/368647 · Cited by 1
Comprehensive molecular characterization of pediatric treatment-induced high-grade glioma: A distinct entity despite disparate etiologies with defining molecular characteristics and potential therapeutic targetsPreprint
DeSisto, J. A., Lucas, J. T., Xu, K., Donson, A. M., Lin, T., Sanford, B. L., Wu, G., Tran, Q. T., Hedges, D. J., Hsu, C., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/809772 · Cited by 2
Self-citation
Identifying Childhood Cancer Survivors at Increased Genetic Risk for Second Malignant Neoplasms: Use of a Novel Screening Tool
Mostafavi, R. M., & Nichols, K. E. (2021) · Journal of Clinical Oncology · doi:10.1200/jco.21.01817 · Cited by 2
Self-citation
Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumorsPreprint
Stoltze, U. K., Foss-Skiftesvik, J., Hansen, T. V. O., Byrjalsen, A., Sehested, A. M., Scheie, D., Mikkelsen, T. S., Rasmussen, S., Bak, M., Okkels, H., et al. (2022) · medRxiv · doi:10.1101/2022.03.01.22271578 · Cited by 2
Acute Lymphoblastic Leukemia
Pui, C. (2015) · Springer eBooks · doi:10.1007/978-3-662-46875-3_57 · Cited by 2
Self-citation
The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition: A Report from the Children's Oncology Group AREN18B5-Q StudyPreprint
Murphy, A. J., Cheng, C., Williams, J. S., Shaw, T. I., Pinto, E. M., Jones, K. M. D., Brzezinski, J. J., Renfro, L. A., Tornwall, B., Huff, V., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2675436/v1 · Cited by 2
Self-citation
Pediatric Tumors as Disorders of Development: The Case for In Vitro Modeling Based on Human Stem Cells
Clairmont, C. D., Gell, J. J., & Lau, C. C. (2024) · Cancer Control · doi:10.1177/10732748241270564 · Cited by 3
The Prevalence of Cancer Predisposition Syndromes (CPSs) in Children with a Neoplasm: A Cohort Study in a Central and Eastern European Population
Telman-Kołodziejczyk, G., Strauss, E., Sosnowska‐Sienkiewicz, P., & Januszkiewicz‐Lewandowska, D. (2024) · Genes · doi:10.3390/genes15091141 · Cited by 1
Basic Science of Pediatric Brain Tumors
Taccone, M. S., Srikanthan, D., Rutka, J. T., & Ramaswamy, V. (2024) · Springer eBooks · doi:10.1007/978-3-031-62017-1_7 · Cited by 1
Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germline PALB2 variant: a case report and literature review
Czarny, J., Galli, D., Wziątek, A., Pastorczak, A. K., Szmyd, B. M., Przybyszewski, B., Raciborska, A., Jończyk‐Potoczna, K., & Derwich, K. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1514697 · Cited by 1
Exploring the link between low germline mutational load and low breast cancer incidence: Lessons from the Xavante Indians
Rueff, J., Conde, J., & Castro, G. (2025) · Translational Oncology · doi:10.1016/j.tranon.2025.102356 · Cited by 1
Meeting proceedings: International Society for Fertility Preservation Tokyo, 15–17 November, 2024
Nakamura, K., Iwahata, H., Sugishita, Y., Suzuki, Y., Furuya, N., Yoshida, T., Morita, A., Igualada, A. J., Ahmad, M. F., Horage‐Okutsu, Y., et al. (2025) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-025-03478-6 · Cited by 1
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas
Saoud, C., Dermawan, J. K. T. K., Arora, K. S., Tap, W. D., Reed, D. R., Slotkin, E. K., Wexler, L. H., Murciano‐Goroff, Y. R., Latham, A. J., Mandelker, D. L., et al. (2025) · npj Precision Oncology · doi:10.1038/s41698-025-00925-6 · Cited by 1
Model of care for individuals with rare cancer predisposition syndromes in Germany
Härter, V., Sänger, B., Gieseke, J. C., Gerasimov, T., Hoffmann, B., Huisinga, C., Karow, A., Müntnich, L. J., Palmaers, N. E., Paquet, S., et al. (2025) · The Lancet Regional Health - Europe · doi:10.1016/j.lanepe.2025.101358 · Cited by 1
A Chemotherapy Responsive Ewing Sarcoma Case Report With a Rare FUS::FLI1 Fusion
Younes, I. E., Budd, G. T., & Cheng, Y. (2025) · Case Reports in Pathology · doi:10.1155/crip/8844406 · Cited by 1
An old leukaemia in young patients—Genetic characteristics of paediatric chronic myeloid leukaemia
Metzler, M., Branford, S., Hijiya, N., & Sakamoto, K. M. (2025) · British Journal of Haematology · doi:10.1111/bjh.70134 · Cited by 1
A multi-dimensional approach to recognize genetic predisposition in children with acute lymphoblastic leukemia
Junk, S. V., Bettini, L. R., Daugs, K., Mescher, M., Jongmans, M. C. J., Borkhardt, A., Cazzaniga, G., Kuiper, R. P., & Bakhuizen, J. J. (2025) · EJC Paediatric Oncology · doi:10.1016/j.ejcped.2025.100320 · Cited by 1
Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition
Önder, G., Özdemir, Ö., Taylan, F., Canpolat, C., Yalçın, K., Erbey, F., Sözmen, B. O., Asarcıklı, F., Bayhan, T., Akçabelen, Y. M., et al. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1624306 · Cited by 1
Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study
Flores‐Lagunes, L. L., Álvarez-Gómez, R. M., Molina‐Garay, C., Jiménez‐Olivares, M., Acosta-Mendez, P. A., García-Solorio, J., Prida-Riba, S., Carrillo‐Sánchez, K., Mendoza‐Caamal, E., la Fuente-Hernández, M. A. D., et al. (2025) · Familial Cancer · doi:10.1007/s10689-025-00490-8 · Cited by 1
Reflections on the Presence of Human Cancer Genes in Primate Genomes
Liang, X. Y., & Heath, L. S. (2025) · Journal of Computational Biology · doi:10.1177/15578666251388496 · Cited by 1
Current state of diagnostic genetic testing in pediatric sarcoma: Survey and review by the Cancer Genomics Consortium Sarcoma Working Group
Schieffer, K. M., Bajaj, R., Koo, S. C., Lavoie, J., Lopez-Terrada, D. H., Lu, X., Luo, M., Phung, T. L., Smolarek, T. A., Sutcliffe, M. J., et al. (2025) · Cancer Genetics · doi:10.1016/j.cancergen.2025.10.106 · Cited by 1
Management of ovarian granulosa cell tumor in childhood: a case report and recommendations for a multidisciplinary approach
Arnaboldi, S. M. C., Gattuso, G., Nicolosi, M. L., Molinari, S., Bettini, L. R., Leva, E., Passoni, P., Chiappa, V., Daolio, C., Balduzzi, A., et al. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1634166 · Cited by 1
Integrating environmental risk factors into pediatric cancer care: Laying the groundwork for improved outcomes and primary prevention
Wood, N. M., Shakeel, O., Ortega-García, J. A., & Miller, M. D. (2025) · Current problems in pediatric and adolescent health care · doi:10.1016/j.cppeds.2025.101821 · Cited by 2
Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni Syndrome
Holcomb, N., Harrington, A. M., Pu, H., Halilovic, B., Shelman, N. R., Zhang, S., Sears, C., Armstrong, T., Shelton, B. J., Corum, L., et al. (2025) · PLoS ONE · doi:10.1371/journal.pone.0320036 · Cited by 1
Targeting the p53 pathway to treat atypical teratoid rhabdoid tumors
Refaat, A., Cho, H. P., Williams, J. S., Stripay, J. L., Blankenship, K., Mercer, K., DeVries, R., Connelly, M., Ganguly, D., Robinson, S., et al. (2025) · Neuro-Oncology Pediatrics · doi:10.1093/neuped/wuaf018 · Cited by 2
Genetic and Carcinogenic Risks of Radiotherapy for Nonmalignant Diseases
Nakamura, J. L. (2025) · Seminars in Radiation Oncology · doi:10.1016/j.semradonc.2025.11.001 · Cited by 1
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers
Zhou, Y., Wang, W., Qiu, J., Huang, J., Fu, L., & Songfeng, X. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04243-3 · Cited by 1
PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants
Kohanbash, G., Ryall, S., Gary, S., Hoffman, L. M., Siddaway, R., Bendel, A., Gripp, K., Walter, A. W., Hansford, J., Smith, A. A., et al. (2026) · Journal of Neuro-Oncology · doi:10.1007/s11060-026-05478-7 · Cited by 1
Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors
Nagy, M., Bhattacharjee, A., Cinelli, A., Housman, D. E., Kamihara, J., Schienda, J., Hamilton, K. V., Cibulskis, C., Ng, C., Fields, N., et al. (2026) · JCO Precision Oncology · doi:10.1200/po-26-00032 · Cited by 1
Understanding and Overcoming Osteosarcoma Heterogeneity
Cho, S., Shelmidine, K., & Yustein, J. T. (2026) · Biomolecules · doi:10.3390/biom16060874 · Cited by 1
Assessing Psychosocial and Supportive Care Needs of Families with Children and Adolescents Diagnosed with Cancer Predisposition Syndromes: study protocol of the KiTDS-Care Study (Preprint)
Biermann, J., Paul, V., Bergelt, C., Inhestern, L., & Kuhlen, M. (2026) · JMIR Research Protocols · doi:10.2196/91737 · Cited by 1
Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms
Semenova, V., Zhukovskaya, E., Зеленова, Е. Е., Михайловна, К. В., Krasnov, G. S., Levashov, A., Sagoyan, G. B., Белышева, Т. С., Kharchikov, D., Suleymanova, A. M., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27146395 · Cited by 1
Potential advantage of clinical exome sequencing in BRCA1/2 -negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers
Dell’Elice, A., Palmarini, C., Anaclerio, F., Pilenzi, L., Calabrese, G., Palka, C., Tinari, N., Grassadonia, A., Ballerini, P., Grossi, S., et al. (2026) · Journal of Medical Genetics · doi:10.1136/jmg-2026-111497 · Cited by 1
Metabolic danger signals: TCA cycle metabolites regulate immunity and disease
Ryan, T. A. J., & Zanoni, I. (2026) · Cell chemical biology · doi:10.1016/j.chembiol.2026.07.004 · Cited by 1
Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots
Diller, L., Cherkerzian, S., Cinelli, A., Housman, D. E., Gillani, R., Hamilton, K. V., Yeh, J. M., Bhattacharjee, A., & Parad, R. B. (2026) · Nature Communications · doi:10.1038/s41467-026-76296-8 · Cited by 1
Searching for early events
Alderton, G. K. (2015) · Nature reviews. Cancer · doi:10.1038/nrc.2015.13 · Cited by 1
Advanced Personal Genome Sequencing as the Ultimate Diagnostic Test
Peters, B. A., Drmanac, S., Liu, J. S., Xun, X., & Drmanac, R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802971-8.00009-2 · Cited by 1
Two siblings with acute lymphoblastic leukaemia: Chance or genetics?
Carceller, E., Ruano, D., López, L. M., & Lassaletta, Á. (2017) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2017.03.007 · Cited by 1
Seltene Tumordispositionssyndrome
Aretz, S., & Siebert, R. (2017) · Medizinische Genetik · doi:10.1007/s11825-017-0159-x · Cited by 1
Next-Generation Sequencing (NGS)-Based Clinical Testing is Recommended for the Detection of Gene Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia Predisposition Syndromes
Robetorye, R. S. (2017) · Journal of Next Generation Sequencing & Applications · doi:10.4172/2469-9853.1000153 · Cited by 1
Surgical treatment for breast tumors in children
Jokić, R., Radovanović, Z., Antić, J., Komarčević, A., Lukić, I., & Varga, I. (2019) · Srpski arhiv za celokupno lekarstvo · doi:10.2298/sarh190204031j · Cited by 1
Identifying possible germline variants from tumor-only sequencing of hematological malignancies
Shao, J., Subedi, S., Pepper, K., Badgett, S., Christensen, P. A., Hendrickson, H. L., Thomas, J. S., Olsen, R. J., & Li, Z. (2020) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2020.1832665 · Cited by 1
Cáncer hereditario: genes involucrados y diagnóstico genético
Pérez-Ramírez, M., Bonilla‐Delgado, J., Godínez-Aguilar, R., Victoria-Acosta, G., Lara, I. P., & Palacios‐Reyes, C. (2021) · Revista del Hospital Juárez de México · doi:10.24875/rhjm.20000111 · Cited by 1
Non‐rhabdomyosarcoma soft tissue sarcomas diagnosed in patients at a young age. An overview of clinical, pathological, and molecular findings
Renzi, S., Cullinan, N. M., Cohen‐Gogo, S., Langenberg, K. P. S., Michaeli, O., Alkendi, J., Kanwar, N., Lo, W. W., Villani, A., Shlien, A., et al. (2021) · Pediatric Blood & Cancer · doi:10.1002/pbc.29022 · Cited by 1
A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature
Messina, R., Cazzato, G., Perillo, T., Stagno, V., Blè, V., Resta, M., Leonardis, F. D., Santoro, N., Signorelli, F., & Ingravallo, G. (2021) · Neurology International · doi:10.3390/neurolint13020017 · Cited by 1
Recognition of Cancer Predisposition Syndromes
Reichman, L., & Goudie, C. (2021) · Springer eBooks · doi:10.1007/978-3-030-74448-9_16 · Cited by 1
Hereditary leiomyomatosis and acute lymphoblastic leukemia: A link through fumarate dyshydratase mutation?
Bailleux, S., Somja, J., Martin, M., Prijck, B. D., & Nikkels, A. (2021) · Acta Clinica Belgica · doi:10.1080/17843286.2021.1980669 · Cited by 1
Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association?
Pellino, G., Chiasso, L., Fiori, G., Mazzone, S., Zama, D., Cordelli, D. M., & Russo, A. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104457 · Cited by 1

Authors: Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R. B., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., Becksfort, J. B., Wang, S., Weaver, M. S., Ding, L., Mardis, E. R., Wilson, R. K., Gajjar, A., Ellison, D. W., Pappo, A. S., Pui, C.-H., Nichols, K. E., & Downing, J. R.
Affiliations: St. Jude Children's Research Hospital (US)
Washington University in St. Louis (US)
ORCID: Zhang, Jinghui
Walsh, Michael F.
Wu, Gang
Edmonson, Michael N.
Gruber, Tanja A.
Easton, John
Ma, Xiaotu
Zhou, Xin
Yergeau, Donald A.
Wilkinson, Mark R.
Chen, Xiang
McGee, Rose B.
Nuccio, Regina
Quinn, Emily
Rusch, Michael
Patel, Aman
Becksfort, Jared B.
Weaver, Meaghann S.
Ding, Li
Mardis, Elaine R.
Wilson, Richard K.
Gajjar, Amar
Ellison, David W.
Pappo, Alberto S.
Pui, Ching-Hon
Nichols, Kim E.
Downing, James R.
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 2015-12-10
Volume: 373
Issue: 24
Pages: 2336-2346
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejmoa1508054
PMC: PMC4734119
OpenAlex: W2303408208
Cited by: 1,345
References: 56
Citations by year: 2026: 90 · 2025: 113 · 2024: 151 · 2023: 132 · 2022: 134 · 2021: 161 · 2020: 141 · 2019: 122 · 2018: 113 · 2017: 101 · 2016: 76 · 2015: 5
FWCI: 67.59
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
Funders: St. Jude Children's Research Hospital (CA21765)
American Lebanese Syrian Associated Charities (CA 21765)
National Cancer Institute (R01CA180006, CA21765, P30CA021765)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: germline mutations, cancer susceptibility genes, childhood cancer, children and adolescents, TP53, APC, BRCA2, neurofibromatosis type 1, PMS2, RB1, RUNX1, tumor suppressor, pathogenicity assessment, family history of cancer, genetic counseling, autism spectrum disorder
MeSH terms: Adolescent, Autistic Disorder, Child, Female, Genes, Dominant, Humans, Male, Neoplasms, Genome, Human, Sequence Analysis, DNA, Germ-Line Mutation, SEER Program, Genetic Predisposition to Disease, Genes, Neoplasm, Young Adult

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Germline Mutations in Predisposition Genes in Pediatric Cancer

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks