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Article

Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.

Scientific reports - 17 Dec 2025

Muniroh Muflihatul, Prihharsanti Christina Hari Nawangsih, Limijadi Edward Kurnia Setiawan, Prajoko Yan Wisnu, Ichzana Yusril, Nabila Ziyadatun, Setyawati Putri, Sutrisno Reza Tri, Teguh Ermawan, Utomo Ahmad Rusdan H

Abstract excerpt

The precise prevalence of pathogenic gene variants in high or moderate penetrance genes associated with hereditary cancer in Indonesia remains undetermined. Furthermore, the criteria for prioritizing individuals for genetic testing are not well-defined. This study examined gene variants in Indonesian familial cancer among both affected and unaffected individuals. A total of 159 participants from 55 families with...

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Identifiers

PMID: 41407742
DOI: 10.1038/s41598-025-27710-6
PMCID: PMC12711947

Genes

BRCA1
BRCA2
ERCC4
MUTYH
PALB2
RAD51D
RB1
VHL

Provenance

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

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