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Article

Germline Pathogenic Variant Prediction Model for Tumor-Only Sequencing Based on Japanese Clinicogenomic Database.

Clinical cancer research : an official journal of the American Association for Cancer Research - 17 Feb 2026

Ikegami Masachika, Zhang Liuzhe, Hirata Makoto, Yamaguchi Tatsuro, Oda Shinya, Kohsaka Shinji, Mano Hiroyuki, Hirai Toshihide, Kobayashi Hiroshi

Abstract excerpt

PURPOSE: Germline pathogenic variants (GPV) are frequently identified as secondary findings in cancer gene panel testing. Due to limited data on germline conversion rates (GCR) in the Japanese population, clinical decisions have relied on European Society for Medical Oncology (ESMO) criteria. We aimed to develop a variant-level GCR prediction algorithm using a Japanese tumor-normal matched panel database and...

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Identifiers

PMID: 41403154
DOI: 10.1158/1078-0432.CCR-25-2985

Genes

MAF
BRCA1
BRCA2
BAP1
CHEK2
NF1
PALB2
PMS2
RAD51C
RET

Provenance

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