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Leveraging tumor multigene panel testing to identify germline variants in gynecologic cancers: A retrospective evaluation of an algorithm-based approach.

Gynecologic oncology - 1 Feb 2026

Parulekar Maitreyee, Kim Yoo-Na, Kim Kidong, Lee Sejoon, No Jae Hong, Lee Jung-Yun, Kim Yong Beom

Abstract excerpt

OBJECTIVE: To evaluate the recall rate and positive predictive value of a novel algorithm for recommending germline testing in women with variants identified through tumor gene panel testing. METHODS: A retrospective analysis was performed in patients with gynecological cancers who underwent TruSight Oncology 500 tumor gene panel testing (Illumina, San Diego, CA, USA) between September 2020 and July 2023 at two...

Topics

Humans
Female
Germ-Line Mutation
Retrospective Studies
Genetic Testing
Algorithms
Genital Neoplasms, Female
Middle Aged
Adult
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Aged

Predictive Value of Tests

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Identifiers

PMID: 41520566
DOI: 10.1016/j.ygyno.2026.01.003

Genes

BRIP1
RAD51D
ATM
BRCA1
BRCA2
CHEK2
MLH1
MSH2
MSH6
PALB2
RAD51C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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