Evidence map›Paper›PMID 40300426›Full record

ArticleGynecologic oncology2025

Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.

Caitlin R Johnson, Chinmayi Aryasomayajula, Alex A Francoeur, Chelsea Stewart, Tiffany Y Sia, Kathleen M Darcy, Chunqiao Tian, Daniel S Kapp, Ying L Liu, John K Chan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gynecologic oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Caitlin R JohnsonCalifornia Pacific Medical Center Research Institute, Sutter Health, San Francisco, CA, USA.
Chinmayi AryasomayajulaKaiser Permanente Santa Clara, Santa Clara, CA, USA.
Alex A FrancoeurUniversity of California, Irvine, Irvine, CA, USA. Electronic address: francoea@hs.uci.edu.
Chelsea StewartUniversity of California, Los Angeles, Los Angeles, CA, USA; University of Tenessee, Knoxville, TN.
Tiffany Y SiaGynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kathleen M DarcyGynecologic Cancer Center of Excellence, Department of Gynecologic Surgery and Obstetrics, Uniformed Services University of the Health Sciences, Walter Reed National Military Medical Center, Bethesda, MD, USA; The Henry M. Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, MD, USA.
Chunqiao TianGynecologic Cancer Center of Excellence, Department of Gynecologic Surgery and Obstetrics, Uniformed Services University of the Health Sciences, Walter Reed National Military Medical Center, Bethesda, MD, USA; The Henry M. Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, MD, USA.
Daniel S KappDepartment of Radiation Oncology, Stanford University School of Medicine, Stanford, CA, USA.
Ying L LiuDivision of Gynecologic Medical Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
John K ChanCalifornia Pacific Medical Center Research Institute, Sutter Health, San Francisco, CA, USA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Patient-Centered Outcomes Research Training in Urologic and Gynecologic Cancers (PCORT UroGynCan)T32CA251072 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Beth Y. Karlan, MARK S. LITWIN · 2020 to 2026
$2.1M
NCI NIH HHS P30 CA008748NCI NIH HHS T32 CA251072
6 · The paper itself

Abstract

objectiveUterine cancer (UC) is the most common gynecologic cancer in the United States, and 5-15 % of patients harbor a germline pathogenic variant (gPV) in a cancer predisposition gene. This study aims to characterize the germline landscape of patients with UC by self-identified ancestry.

methodsPatients with UC who received germline testing were identified from the publicly available Myriad Collaborative Research Registry. Rates of gPVs were calculated, overall and by self-reported ancestry, with a focus on genes associated with UC, including Lynch syndrome (LS) and homologous recombination-related (HR) genes.

resultsAmong 35,310 patients with UC, 23,081 (65.4 %) identified as White, 3683 (10.4 %) as Hispanic, 2132 (6.0 %) as Black, 1244 (3.5 %) as Ashkenazi Jewish (AJ), 1093 (3.1 %) as Asian, and 7550 (21.4 %) as Other. Overall, 5141 (14.6 %) patients had a gPV, with highest rates among White (15.5 %) and Asian (17.8 %) compared to Black (10.4 %) and Hispanic (11.6 %) patients, p < 0.0001. LS gPVs were observed in 3155 (8.9 %) patients and was most prevalent in Asian women (12.9 %), particularly MLH1 and MSH2-associated LS. HR-related gPVs were found in 1066 (3.0 %) patients overall and were most common in AJ (4.1 %) and Black (4.0 %) patients, with high rates of BRCA1/2 gPVs in AJ patients and non-BRCA HR-related gPVs in Black patients.

conclusionsOf the over 35,000 patients with UC, 14.5 % had a gPV identified, supporting consideration of universal germline testing in endometrial cancer given high actionability. We observed heterogeneity in gPVs by self-reported ancestry with Black and Hispanic patients having the lowest rates, potentially contributing to disparities in UC.

Indexed as

Germ-Line MutationUterine NeoplasmsAdultAgedColorectal Neoplasms, Hereditary NonpolyposisEthnicityFemaleGenetic Predisposition to DiseaseHumansMiddle AgedRacial GroupsRegistriesUnited StatesGermline pathogenic variantsHomologous recombination variantsLynch syndromeSelf-reported ancestryUterine cancer

Identifiers

PMID40300426
PMCPMC12836400

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Registered trials

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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.