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Article

VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.

Journal of human genetics - 1 Oct 2026

Kashima Mina, Tsubamoto Hiroshi, Ueda Tomoko, Kinjo Chinatsu, Okada Chiho, Muroi Yoshiko, Ueda Mako, Otsuki Taiichiro, Kataoka Kozo, Nagahashi Masayuki, Matsuda Ikuo, Sawai Hideaki, Kijima Takashi, Miyazaki Ayako

Abstract excerpt

Comprehensive genomic profiling (CGP) using tumor-only sequencing detects pathogenic or likely pathogenic (P/LP) variants in hereditary cancer susceptibility genes (HCSGs). However, interpreting the biological origin and clinical significance of detected variants is often challenging, complicating communication and decision-making during genetic counseling. We developed a variant allele frequency (VAF)-Tumor...

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Identifiers

PMID: 42527578
DOI: 10.1038/s10038-026-01494-7
PMCID: PMC13612221

Genes

BRCA1
POLE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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