ArticleJCO precision oncology2019
Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
Article in JCO precision oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- Mutation detection in women diagnosed with endometrial cancer: a next-generation sequencing analysis.Molecular & cellular oncology · 2026Article
- Differential Receipt of Genetic Services Among Patients With Gynecologic Cancer and Their Relatives: A Review of Challenges to Health Equity.Clinical obstetrics and gynecology · 2024Review
- Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.JCO precision oncology · 2024Article
- Germline drivers of gynecologic carcinosarcomas.Gynecologic oncology · 2023Article
- Germline multigene panel testing of patients with endometrial cancer.Oncology letters · 2023Article
- Comprehensive analysis of germline drivers in endometrial cancer.Journal of the National Cancer Institute · 2023Article
- Current Evidence-Based Systemic Therapy for Advanced and Recurrent Endometrial Cancer.Journal of the National Comprehensive Cancer Network : JNCCN · 2023Review
- GermlineJCO precision oncology · 2022Article
- Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.JCO precision oncology · 2021Article
- Diagnosis and management of an endometrial cancer patient with Cowden syndrome.Gynecologic oncology · 2021Article
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeMutations in DNA mismatch repair (MMR) genes and PATIENTS AND
methodsPatients were prospectively consented (4/2016-5/2017) to an IRB-approved protocol of tumor-normal sequencing via a custom next-generation sequencing panel (MSK-IMPACT) with return of germline results for >75 cancer predisposition genes. Tumors were assessed for microsatellite instability (MSI). Per institutional standards, all tumors underwent Lynch syndrome screening via IHC for MMR proteins.
resultsOf 156 patients who consented to germline genetic testing, 118 (76%) had stage I disease. Tumors were endometrioid in 104 (67%), of which 60 (58%) were grade 1. Twenty-four pathogenic germline variants were identified in 22 patients (14%)-7 (4.5%) with highly penetrant cancer syndromes and 15 (9.6%) with variants in moderate-, low-penetrance, or recessive genes. Of these, 5 (21%) were in Lynch syndrome genes (2
conclusionIn unselected patients with predominantly low-risk, early-stage endometrial cancer, germline multi-gene panel testing identifies cancer predisposition gene variants in 14%. This finding may have implications for future cancer screening and risk-reduction recommendations. Universal IHC screening for Lynch syndrome successfully identifies the majority (71%) of high-penetrance germline mutations.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.