{ "@context": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003", "id": "CG-AC:AC003", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "26219", "producedAtUTC": "Thu, 10 Sep 2026 19:39:30 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/co", "id": "CG-AC:AC003/co", "type": "GeneticCondition", "label": "Wilms tumor" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ou/Morbidity%20and%20mortality%20from%20WT", "id": "CG-AC:AC003/ou/Morbidity and mortality from WT", "type": "Outcome", "label": "Morbidity and mortality from WT" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/intv/Surveillance%20via%20abdominal%20ultrasound", "id": "CG-AC:AC003/intv/Surveillance via abdominal ultrasound", "type": "Intervention", "label": "Surveillance via abdominal ultrasound" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/cap", "id": "CG-AC:AC003/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Wed, 09 Feb 2022 00:00:00 -0000", "releaseNum": "1.2.4", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/en/potgd", "id": "CG-AC:AC003/en/potgd", "type": "EvidenceNarrative", "narrative": "Wilms tumor (WT) is the most common kidney cancer in childhood, with a prevalence of one in 10,000 children. In 10%-15% of individuals with WT, the cause is considered to be a germline pathogenic variant or an epigenetic alteration occurring early during embryogenesis. These may or may not be associated with a known congenital malformation syndrome or hereditary cancer syndrome.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF002026", "CG-AC:RF002027", "CG-AC:RF002028", "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/en/nh", "id": "CG-AC:AC003/en/nh", "type": "EvidenceNarrative", "narrative": "Individuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF002026", "CG-AC:RF002027", "CG-AC:RF002028", "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/en/cf", "id": "CG-AC:AC003/en/cf", "type": "EvidenceNarrative", "narrative": "WT is a complex embryonal tumor with conventional triphasic histology (blastemic, epithelial, and stromal components). Nephrogenic rests, benign foci of embryonal kidney cells that persist abnormally into postnatal life, are considered to be WT precursors. Pathogenic variants may predispose to nephrogenic rests, while additional pathogenic variants transform nephrogenic rests into a WT. WT usually presents as an abdominal mass in an otherwise apparently healthy child. Abdominal pain, fever, anemia, hematuria, and hypertension are seen in 22% - 35% of affected children.\\n\\nWT1 deletions are also associated with WAGR syndrome (WT, aniridia, genital anomalies, retardation), which is characterized by WT, aniridia, hemihypertrophy, genitourinary abnormalities, ambiguous genitalia, gonadoblastoma, and intellectual disability. However, this report will focus on WT1-related WT and not other outcomes associated with pathogenic variants of WT1 or larger deletions that include WT1.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF002027", "CG-AC:RF002028", "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/en/ACMI2547", "id": "CG-AC:AC003/en/ACMI2547", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF002029" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/CDEC2658", "id": "CG-AC:AC003/ten/CDEC2658", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Most cases of WT present prior to age 5 and have no apparent symptoms in the early stages. Signs and symptoms that do present are non-specific and could also be due to a variety of other disorders. Early detection is important to detect the tumor at an early stage.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF002027", "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/NOI2674", "id": "CG-AC:AC003/ten/NOI2674", "type": "TieredEvidenceNarrative", "narrative": "Because surveillance is associated with economic and psychosocial costs including anxiety associated with exams, and false-positive results leading to unnecessary interventions, the decision to pursue surveillance requires careful consideration.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/ACPE3618", "id": "CG-AC:AC003/ten/ACPE3618", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF002036" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/ACPE3619", "id": "CG-AC:AC003/ten/ACPE3619", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "WT1 germline variants have reduced penetrance.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/EN2659", "id": "CG-AC:AC003/ten/EN2659", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "WT1 germline variants have variable expressivity.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF002029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/PGM2617", "id": "CG-AC:AC003/ten/PGM2617", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "1", "narrative": "A recent meta-analysis revealed a pooled prevalence for WT1 variants in WT to be 0.141 (95% CI: 0.104-0.178). Information on the prevalence of WT1 variants in the general population was not available.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF002036" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/ten/RR2498", "id": "CG-AC:AC003/ten/RR2498", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "No information on relative risk is available.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/tr/ACCA3077", "id": "CG-AC:AC003/tr/ACCA3077", "type": "TieredRecommendation", "evidenceSourceTier": "Not provided", "recommendation": "No circumstances to avoid have been identified.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/tr/ACSU3357", "id": "CG-AC:AC003/tr/ACSU3357", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "No evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF002034", "CG-AC:RF002035" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/tr/ACSU3356", "id": "CG-AC:AC003/tr/ACSU3356", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "The goal of surveillance in individuals with a genetic predisposition to WT is to\\ndetect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF002029", "CG-AC:RF002033", "CG-AC:RF002034" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/tr/ACPM4826", "id": "CG-AC:AC003/tr/ACPM4826", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "However, two small studies have assessed nephron-sparing surgery (NSS) in children with WT. A retrospective review of 8 children (aged 7 to 108 months) with syndromes predisposing to WT (Beckwith-Wiedemann syndrome, isolated hemihyperplasia, WAGR syndrome, and isolated 11p13 deletion) who underwent nephrectomy for unilateral tumors during a 10-year period was conducted with NSS performed in 6 and radical nephrectomies in 2. After a mean follow up of 36 months (range 6 to 72) no recurrences were documented and all children had normal creatinine levels. A second retrospective study of 18 children with bilateral WT at mean age 2.28±1.12 years successfully underwent unilateral or bilateral NSS during a 15-year period. The 4-year event-free survival and overall survival rates were 68.18 and 85.56%, respectively. In univariable analysis, tumor histology (p=0.0028) and disease stage (p=0.0303) appeared significantly associated with overall survival.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF002030", "CG-AC:RF002031", "CG-AC:RF002032" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/tr/ACPM4827", "id": "CG-AC:AC003/tr/ACPM4827", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "There are no specific recommendations for management of WT associated with a WT1 pathogenic variant.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF002030" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei", "id": "CG-AC:AC003/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/nott", "id": "CG-AC:AC003/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/pgd", "id": "CG-AC:AC003/oei/pgd", "type": "EvidenceItem", "keyText": "1-2 in 10000", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC003/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/cf", "id": "CG-AC:AC003/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC003/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/nh", "id": "CG-AC:AC003/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC003/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/tmc", "id": "CG-AC:AC003/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/moi", "id": "CG-AC:AC003/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC003/en/ACMI2547" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/pgm", "id": "CG-AC:AC003/oei/pgm", "type": "EvidenceItem", "keyText": "1-2 in 1000", "sourceOfPopulation": "Other", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/PGM2617" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/pe/ACPE3619", "id": "CG-AC:AC003/oei/pe/ACPE3619", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/ACPE3619" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/pe/ACPE3618", "id": "CG-AC:AC003/oei/pe/ACPE3618", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/ACPE3618" } } ], "relativeRisk": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/rr/RR2498", "id": "CG-AC:AC003/oei/rr/RR2498", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/RR2498" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/oei/ex/EN2659", "id": "CG-AC:AC003/oei/ex/EN2659", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/EN2659" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei", "id": "CG-AC:AC003/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/aoi", "id": "CG-AC:AC003/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/noi/NOI2674", "id": "CG-AC:AC003/iei/noi/NOI2674", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/NOI2674" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/eoi", "id": "CG-AC:AC003/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/pm/ACPM4827", "id": "CG-AC:AC003/iei/pm/ACPM4827", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC003/tr/ACPM4827" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/pm/ACPM4826", "id": "CG-AC:AC003/iei/pm/ACPM4826", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC003/tr/ACPM4826" } } ], "circumstanceToAvoid": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/cta/ACCA3077", "id": "CG-AC:AC003/iei/cta/ACCA3077", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC003/tr/ACCA3077" } } ], "surveillance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/su/ACSU3356", "id": "CG-AC:AC003/iei/su/ACSU3356", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC003/tr/ACSU3356" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/su/ACSU3357", "id": "CG-AC:AC003/iei/su/ACSU3357", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC003/tr/ACSU3357" } } ] }, "conditionEscapeDetection": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/ced", "id": "CG-AC:AC003/iei/ced", "type": "EvidenceLine", "chanceToEscapeDetection": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003/iei/cted/CDEC2658", "id": "CG-AC:AC003/iei/cted/CDEC2658", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC003/ten/CDEC2658" } } ] } } }, "references": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002026", "id": "CG-AC:RF002026", "type": "Publication", "publicationType": "PMID", "citation": "Deng C, Dai R, Li X, Liu F. Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review. Cancer Sci. (2016) 107(5):690-9.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=26892980", "xdbref": [ "PMID:26892980" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002027", "id": "CG-AC:RF002027", "type": "Publication", "publicationType": "Other", "citation": "true. Wilms' tumor. National organization for rare disorders. Publisher: National organization of rare diseases. (2005) Accessed: 2018-06-25. ", "webUrl": "https://rarediseases.org/rare-diseases/wilms-tumor" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002028", "id": "CG-AC:RF002028", "type": "Publication", "publicationType": "Orphanet", "citation": "Nephroblastoma. Orphanet encyclopedia [Internet]", "xdbref": [ "Orphanet:654" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002029", "id": "CG-AC:RF002029", "type": "Publication", "publicationType": "GeneReview", "citation": "JS Dome, V Huff. Wilms tumor predisposition. 2003 Dec 19[Updated 2016 Oct 20]. In: MP Adam, HH Ardinger, RA Pagon, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washingtom, Seattle; 1993-2026. ", "webUrl": "https://www.ncbi.nlm.nih.gov/books/NBK1294/", "xdbref": [ "PMID:20301471", "GeneReview:NBK1294" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002030", "id": "CG-AC:RF002030", "type": "Publication", "publicationType": "PMID", "citation": "Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A. Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet. (2011) 19(4).", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=21224893", "xdbref": [ "PMID:21224893" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002031", "id": "CG-AC:RF002031", "type": "Publication", "publicationType": "PMID", "citation": "Romao RL, Pippi Salle JL, Shuman C, Weksberg R, Figueroa V, Weber B, Bagli DJ, Farhat WA, Grant R, Gerstle JT, Lorenzo AJ. Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years. J Urol. (2012) 188(4 Suppl):1493-8.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=22910237", "xdbref": [ "PMID:22910237" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002032", "id": "CG-AC:RF002032", "type": "Publication", "publicationType": "PMID", "citation": "Tan XH, Zhang DY, Liu X, Lin T, He DW, Li XL, Wei GH. Retrospective analysis to determine outcomes of patients with bilateral Wilms tumor undergoing nephron sparing surgery: 15-year tertiary single-institution experience. Pediatr Surg Int. (2018) 34(4):427-433.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=29368077", "xdbref": [ "PMID:29368077" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002033", "id": "CG-AC:RF002033", "type": "Publication", "publicationType": "PMID", "citation": "Scott RH, Walker L, Olsen OE, Levitt G, Kenney I, Maher E, Owens CM, Pritchard-Jones K, Craft A, Rahman N. Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child. (2006) 91(12):995-9.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=16857697", "xdbref": [ "PMID:16857697" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002034", "id": "CG-AC:RF002034", "type": "Publication", "publicationType": "Other", "citation": "true. Genetic predisposition to wilms tumor. Renal tumors of childhood: biology and therapy. (2014) Accessed: 2018-06-27. ", "webUrl": "https://www.springer.com/us/book/9783662440025" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002035", "id": "CG-AC:RF002035", "type": "Publication", "publicationType": "PMID", "citation": "Choyke PL, Siegel MJ, Craft AW, Green DM, DeBaun MR. Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol. (1999) 32(3):196-200.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=10064187", "xdbref": [ "PMID:10064187" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF002036", "id": "CG-AC:RF002036", "type": "Publication", "publicationType": "PMID", "citation": "Kaneko Y, Okita H, Haruta M, Arai Y, Oue T, Tanaka Y, Horie H, Hinotsu S, Koshinaga T, Yoneda A, Ohtsuka Y, Taguchi T, Fukuzawa M. A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation. Br J Cancer. (2015) 112(6):1121-33.", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=25688735", "xdbref": [ "PMID:25688735" ] } ] }