ArticleGynecologic oncology2019
Cancer susceptibility gene mutations in type I and II endometrial cancer.
Article in Gynecologic oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis.BMC genomic data · 2024Pooled it
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.Journal of medical genetics · 2026Article
- Comparison of clinical, pathological and genomic characteristics between Lynch and non-Lynch patients with MMRd endometrial carcinoma.BMC cancer · 2026Article
- Potential role of Fanconi anemia pathway in the pathogenesis of endometrial cancer (Review).Molecular medicine reports · 2025Review
- Anticancer Molecular Mechanisms of Epigallocatechin Gallate: An Updated Review on Clinical Trials.Food science & nutrition · 2025Review
- An Updated Review of the Anticancer Mechanisms and Therapeutic Potential of Naringenin.Food science & nutrition · 2025Review
- Micro- and Macronutrients in Endometrial Cancer-From Metallomic Analysis to Improvements in Treatment Strategies.International journal of molecular sciences · 2024Review
- Trends in uterine cancer incidence in the United States: The contribution of age, period and cohort effects.Gynecologic oncology · 2024Article
- Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus onFrontiers in genetics · 2024Article
- Comparison of clinical characteristics and prognosis between type I and type II endometrial cancer: a single-center retrospective study.Discover oncology · 2023Article
- MicroRNAs as Potential Biomarkers in Gynecological Cancers.Biomedicines · 2023Review
- Germline multigene panel testing of patients with endometrial cancer.Oncology letters · 2023Article
- AtypicalFrontiers in oncology · 2023Article
- Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.JCO precision oncology · 2022Article
- Endometrial Cancer Management in Young Women.Cancers · 2022Review
- Metabolomics and the Multi-Omics View of Cancer.Metabolites · 2022Review
- Endothelial cell-specific molecule 1 (ESM1) promoted by transcription factor SPI1 acts as an oncogene to modulate the malignant phenotype of endometrial cancer.Open medicine (Warsaw, Poland) · 2022Article
- Endometrial cancer.Nature reviews. Disease primers · 2021Review
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms.Journal of human genetics · 2021Review
- Tumor stiffness measured by 3D magnetic resonance elastography can help predict the aggressiveness of endometrial carcinoma: preliminary findings.Cancer imaging : the official publication of the International Cancer Imaging Society · 2021Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
objectivesTo determine the incidence of germline cancer predisposition gene mutations in patients with endometrial cancer (EC) subtypes.
methodsGermline DNA was extracted from whole blood collected from consenting patients undergoing primary surgery for EC between 5/2005 and 11/2016. DNA samples were evaluated by product sequencing from a targeted multiplex PCR panel including 21 known/suspected cancer predisposition genes. Variants were classified as pathogenic/likely pathogenic based on allele frequency (<0.003), effects on protein function, and ClinVar assertions.
resultsGermline panel testing was performed on 1170 cases of EC; 849 (72.6%) were type I, and 321 (27.4%) were type II EC, including 135 (11.5%) uterine serous cancers (USC). BRCA1 mutations were enriched in Type II EC compared to Type I EC (0.93% vs. 0.12%, p = 0.07). Lynch Syndrome (LS) mutations were identified in 1.4% of type I and 1.6% of type II EC (p = 0.79), including 1.5% for USC. In total, predisposition gene mutations were present in 4.2% of type I and 5.3% of type II EC, as well as 6.7% of patients with USC).
conclusionsBRCA1/2 and Lynch mutations were rare in this cohort of unselected patients with type I and II EC, including USC. However, the presence of predisposition gene mutations in 4.2% of EC type I, 5.3% of EC type II, and 6.7% of USC suggests that somatic mutation testing should be considered for all EC patients.
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