Evidence map›Paper›PMID 41455088›Full record

ArticleGenes & genomics2026

Prevalence of germline 113 cancer genes in healthy Indonesian hospital staff.

Mega Hayati, Fahreza Saputra, Hubertus Hosti Hayuanta, Lyana Setiawan, Ahmad Rusdan H Utomo

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Article in Genes & genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Mega HayatiGraduate School of Biomedical Science Universitas YARSI, Jakarta, Indonesia.
Fahreza SaputraBiomedical Genome Science Initiative (BGSI), Dharmais National Cancer Centre, Jakarta, Indonesia.
Hubertus Hosti HayuantaDepartment of Clinical Pathology, Dharmais National Cancer Centre, Jakarta, Indonesia.
Lyana SetiawanDepartment of Clinical Pathology, Dharmais National Cancer Centre, Jakarta, Indonesia.
Ahmad Rusdan H UtomoGraduate School of Biomedical Science Universitas YARSI, Jakarta, Indonesia. Ahmad.rusdan@yarsi.ac.id.

Funding

Global Fund to Fight AIDS, Tuberculosis and Malaria Global Fund to Fight AIDS, Tuberculosis and Malaria
6 · The paper itself

Abstract

backgroundThe absence of population-specific genetic variant frequency data in Indonesia complicates the interpretation of germline genetic variants of DNA repair genes critical for cancer predisposition.

objectiveto estimate baseline frequency of pathogenic/likely pathogenic germline variants (P/LP) and variant of unknown significance (VUS), we conducted an exploratory genetic screening in a convenience sample of 255 hospital staff without personal history of cancer, i.e. healthy subjects.

methodsA cross-sectional study was conducted at Dharmais Cancer Centre, Indonesia. 156 (61%) and 99 subjects (39%) reported absence and presence of family history (FH) of cancer, respectively. Peripheral blood DNA was sequenced using the Illumina 113-gene TruSight hereditary panel, and variants were classified according to the American College of Medical Genetics (ACMG) guidelines.

resultsTwelve out of 255 subjects or 4.71% (95% CI: 2.45–8.09%) carried P/LP variants of MUTYH, XPA, XPC, FANCA, FANCC, CHEK2 and Homologous DNA Repair (BRCA1, BRCA2, BRIP1, and RAD51D) genes. Five out of 99 with FH (5.1%) and seven out 156 subjects (4.48%) without FH had P/LP variants. There were 4 subjects (1.56%) harboring P/LP variants of BRCA1 (1.17%) and BRCA2 (0.39%) genes. BRCA1 and FANCA P/LP variants were found exclusively in 5 subjects with FH. One subject with FH carried dual P/LP variants of BRCA1 and CHEK2 genes. 21.6% subjects with and without family history had VUS in HRR genes.

conclusionsThe P/LP germline variants were detected in healthy subjects with and without family history. Furthermore, we detected several VUS that were potentially to be reclassified as benign since their prevalence in healthy subjects was more common than the rate of the disease.

Indexed as

Germ-Line MutationNeoplasmsAdultBRCA1 ProteinBRCA2 ProteinCheckpoint Kinase 2Cross-Sectional StudiesDNA-Binding ProteinsDNA GlycosylasesFanconi Anemia Complementation Group ProteinsFemaleGenetic Predisposition to DiseaseGenetic TestingHumansIndonesiaMaleBRCA1 ProteinBRCA2 ProteinBRCA2 protein, humanBRIP1 protein, humanCheckpoint Kinase 2CHEK2 protein, humanDNA-Binding ProteinsDNA GlycosylasesFanconi Anemia Complementation Group ProteinsmutY adenine glycosylaseRAD51D protein, humanRNA HelicasesGermline variants, family history, cancer risk, Indonesia, NGS, underrepresented population, targeted gene panel, healthy subjects, VUS

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.