ArticleJournal of the National Cancer Institute2023
Comprehensive analysis of germline drivers in endometrial cancer.
Article in Journal of the National Cancer Institute, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Perioperative ctDNA as a prognostic biomarker in endometrial cancer - the CODEC study.Translational oncology · 2026Article
- A rare case of uterine carcinosarcoma in a 21-year-old woman with hereditary breast and ovarian cancer syndrome: A case report.Oncology letters · 2026Article
- Design and evaluation of a custom circulating tumour DNA assay to detect endometrial cancer recurrence.NPJ precision oncology · 2026Article
- Updates and evolving care paradigms for pre-menopausal patients with endometrial cancer.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2026Review
- Age-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases.JCO precision oncology · 2026Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Analysis of racial differences in HER2 status and molecular subtype in grade 3 endometroid endometrial carcinoma.Gynecologic oncology reports · 2025Article
- Whole-genome sequencing-based characterization of endometrial serous carcinoma.Gynecologic oncology · 2025Article
- Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.Gynecologic oncology · 2025Article
- Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.Virchows Archiv : an international journal of pathology · 2025Article
- Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?JCO precision oncology · 2024Article
- Review
- Article
- Targeting DNA Damage Repair and Immune Checkpoint Proteins for Optimizing the Treatment of Endometrial Cancer.Pharmaceutics · 2023Review
- Germline drivers of gynecologic carcinosarcomas.Gynecologic oncology · 2023Article
- Prognostic factors and survival of patients with endometrial cancer: A 10-year retrospective cohort study in a tertiary referral center in Northern Taiwan.Tzu chi medical journalArticle
Corrections and comments
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Authors and funding
42 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundWe sought to determine the prevalence of germline pathogenic variants (gPVs) in unselected patients with endometrial cancer (EC), define biallelic gPVs within tumors, and describe their associations with clinicopathologic features.
methodsGermline assessment of at least 76 cancer predisposition genes was performed in patients with EC undergoing clinical tumor-normal Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) sequencing from January 1, 2015, to June 30, 2021. In patients with gPVs, biallelic alterations in ECs were identified through analysis of loss of heterozygosity and somatic PVs. Clinicopathologic variables were compared using nonparametric tests.
resultsOf 1625 patients with EC, 216 (13%) had gPVs, and 15 patients had 2 gPVs. There were 231 gPVs in 35 genes (75 [32%] high penetrance; 39 [17%] moderate penetrance; and 117 [51%] low, recessive, or uncertain penetrance). Compared with those without gPVs, patients with gPVs were younger (P = .002), more often White (P = .009), and less obese (P = .025) and had differences in distribution of tumor histology (P = .017) and molecular subtype (P < .001). Among 231 gPVs, 74 (32%) exhibited biallelic inactivation within tumors. For high-penetrance gPVs, 63% (47 of 75) of ECs had biallelic alterations, primarily affecting mismatch repair (MMR) and homologous recombination related genes, including BRCA1,BRCA2, RAD51D, and PALB2. Biallelic inactivation varied across molecular subtypes with highest rates in microsatellite instability-high (MSI-H) or copy-number (CN)-high subtypes (3 of 12 [25%] POLE, 30 of 77 [39%] MSI-H, 27 of 60 [45%] CN-high, 9 of 57 [16%] CN-low; P < .001).
conclusionsOf unselected patients with EC, 13% had gPVs, with 63% of gPVs in high-penetrance genes (MMR and homologous recombination) exhibiting biallelic inactivation, potentially driving cancer development. This supports germline assessment in EC given implications for treatment and cancer prevention.
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