Related Experiment Video
Updated: Jan 8, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel
Muflihatul Muniroh1, Christina Hari Nawangsih Prihharsanti2, Edward Kurnia Setiawan Limijadi3
1Department of Physiology, Faculty of Medicine, Universitas Diponegoro, Prof. H. Soedarto Street, SH., Semarang, 50275, Central Java, Indonesia. muflihatul.muniroh@fk.undip.ac.id.
Abstract:
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 a history of cancer, including affected (N = 61) and unaffected (N = 98) individuals, underwent genetic testing using germline DNA with the 113 multigene panel. Various cancer types were identified, including breast (N = 46), ovarian (N = 3), retinoblastoma (N = 3), colon (N = 2), uterine (N = 2), and other cancers (N = 1 each) such as lung, prostate, thyroid, bladder, and testicular seminoma. Pathogenic variants were identified in 10 (18.8%) of the 55 families, with 6 (60%) confirmed as hereditary cancer families. These variants were detected in 14 affected individuals, involving 8 distinct genes (BRCA1, BRCA2, MUTYH, PALB2, RAD51D, VHL, ERCC4, and RB1), and the prevalence was significantly higher in cases of early-onset (< 40 years) compared to late-onset cancer (53.8% vs. 14.6%, p < 0.01). These findings confirm that several pathogenic gene variants in familial cancer in Indonesia are inherited. This data is crucial for both affected and unaffected family members to facilitate appropriate management strategies.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Cancers Originate from Somatic Mutations in a Single Cell
Single Nucleotide Polymorphisms-SNPs
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer Prevention
Some...