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Article

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

Journal of medical genetics - 23 Jul 2026

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

Abstract excerpt

BACKGROUND: Current 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42055802
DOI: 10.1136/jmg-2025-111285
PMCID: PMC13479625

Genes

ATM
BRCA1
BRCA2
BRIP1
CHEK2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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