Evidence map›Paper›PMID 42055802›Full record

ArticleJournal of medical genetics2026

Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.

Lauren Tostrud, Simge Bagci Turkmen, Jiaqi Zhang, Rachel Hodan, Kerry Kingham, Oliver Dorigo, James M Ford, Allison W Kurian, Talayeh S Ghezelayagh

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Article in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from 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.

2 · The registry

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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

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Lauren TostrudDepartment of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA.
Simge Bagci TurkmenDepartment of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA.
Jiaqi ZhangDepartment of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA.
Rachel HodanDepartment of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA.ORCID http://orcid.org/0000-0003-2887-4079
Kerry KinghamDepartment of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA.
Oliver DorigoDepartment of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA.
James M FordDepartment of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA.
Allison W KurianDepartment of Medicine (Oncology), Stanford University, Palo Alto, California, USA.
Talayeh S GhezelayaghDepartment of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA tghezel@stanford.edu.ORCID http://orcid.org/0000-0001-6216-8501

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCurrent guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV) identification. This study aimed to evaluate the rate of genetic testing referral and completion in a cohort of patients with USC, determine the prevalence of clinically meaningful PVs found on testing and explore factors associated with genetics referral and testing completion.

methodsWe retrospectively examined the medical records of all individuals diagnosed with USC between 2019 and 2024 seen at a single academic cancer centre. Outcomes of interest included referral for germline genetic testing, completion of testing and testing results.

resultsOf 131 individuals included, 5 (3.8%) had prior genetic testing and only 45 (34.4%) were recommended to undergo genetic testing or referred to cancer genetics. Younger individuals and those with a personal history of cancer other than USC or family history of breast or ovarian cancer were more likely to be referred. Nine (26.5%) of 34 individuals who completed germline testing had a PV identified in a cancer-related gene, including

conclusionsGiven the high prevalence of PVs in this population, germline genetic testing for all patients diagnosed with USC can provide clinically meaningful benefit but is currently underused in practice.

Indexed as

Cystadenocarcinoma, SerousGenetic TestingGerm-Line MutationUterine NeoplasmsAdultAgedBRCA1 ProteinBRCA2 ProteinCheckpoint Kinase 2FemaleGenetic Predisposition to DiseaseHumansMiddle AgedMismatch Repair Endonuclease PMS2Ovarian NeoplasmsReferral and ConsultationBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2Mismatch Repair Endonuclease PMS2RNA HelicasesGenetic Predisposition to DiseaseGenetic TestingMedical OncologyMutation Rate

Identifiers

PMID42055802
PMCPMC13479625

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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.