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Mutation of BRCA1/2 Gene in Premenopausal Triple-Negative Breast Cancer Patients in West Sumatera Harahap, Wirsma Arif; Khambri, Daan; Panigoro, Sonar Soni; Hafiz, Muhammad Zaki Abdul
Indonesian Journal of Cancer Vol 19, No 1 (2025): March
Publisher : http://dharmais.co.id/

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33371/ijoc.v19i1.1255

Abstract

Background: The BRCA1/2 mutation rate was found to be higher in triple-negative breast cancer (TNBC) patients depending on young age, and the presence of a family history of breast cancer and ovarian cancer. Research on BRCA1/2 germline mutations that focused on premenopausal TNBC patients in Indonesia has never been carried out. The objective of this research is to determine the BRCA1/2 germline gene mutation status in premenopausal TNBC patients in West Sumatra.Methods: This is a descriptive study conducted at the Surgical Oncology Division of DR. M. Djamil Hospital, Padang from April to July 2023. This study included patients aged 50 years who were diagnosed with the TNBC subtype at Dr. M. Djamil Hospital, Padang from January 2016 to July 2023. Secondary data was collected through the patient’s medical records to observe the TNBC patient’s characteristics. A blood test of TNBC patients was carried out to determine germline mutation of BRCA1/2.Results: 22 patients with TNBC participated in the study. In this study, 4/22 (18.2%) had BRCA2 pathogenic mutations and no BRCA1 pathogenic mutation was found. All patients with BRCA2 pathogenic mutation have the same mutation characteristics, i.e exon 3, genetic variation (c.262_263delCT), amino acids (p.Leu88AlafsTer12), and type of mutation (Frameshift Deletion). Conclusions: TNBC patients in West Sumatra have BRCA2 pathogenic mutations with the same characteristics as the mutations
Inter- and intra-rater reliability of modified near-infrared camera to assess superficial lymphatic system in breast cancer-related lymphedema Brahma, Bayu; Yusuf, Prasandhya Astagiri; Priambodo, Purnomo Sidi; Harimurti, Kuntjoro; Haryono, Samuel Johny; Harlim; Suryadi; Paskahenru, Mahesa; Lesmana, Rika; Manangka, Rumuat Semuel Wullul; Taher, Akmal; Panigoro, Sonar Soni
Medical Journal of Indonesia Vol. 35 No. 1 (2026): March
Publisher : Faculty of Medicine Universitas Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.13181/mji.oa.258234

Abstract

BACKGROUND Near-infrared (NIR) fluorescence imaging is one of the most useful diagnostic methods for breast cancer-related lymphedema (BCRL). It utilizes indocyanine green (ICG) lymphography, which requires a commercial camera that is not widely available. This study aimed to qualitatively assess the reliability of the modified NIR camera in diagnosing BCRL. METHODS This prospective cross-sectional study was conducted between December 2023 and December 2024 in breast cancer (BC) patients with BCRL. A commercial mirrorless digital camera was modified by incorporating an excitation light source and spectral filters to enable NIR imaging. To evaluate the camera reliability, intra- and inter-observer agreements were assessed using Kappa analysis. Three independent observers evaluated dermal backflow patterns of lymphatic flow: linear, splash, stardust, and diffuse patterns. RESULTS 60 BC patients with BCRL resulting in 280 images were included. The mean (standard deviation) age was 54.7 (10.1) years and body mass index were 27.1 (4.5) kg/m². Most patients had stage IIA BC (40%) and stage IV ICG lymphography (38%). Intra-observer analysis showed observers 1 and 2 of had a Kappa of 1.00 (95% confidence interval [CI]: 1.00–1.00), while observer 3 had Kappa of 0.99 (95% CI: 0.97–1.00). Inter-observer analysis between observers 1 and 2 showed Kappa 1.00 (95% CI: 1.00–1.00), while observers 1–3 and 2–3 had Kappa of 0.99 (95% CI: 0.97–1.00). Observer 3 misinterpreted 3 linear as splash patterns. CONCLUSIONS This study showed a high inter- and intra-observer agreements making it reliable for BCRL diagnosis.
THE ROLE OF EPIGENOME-WIDE ASSOCIATION STUDIES (EWAS) IN IDENTIFYING EPIGENETIC BIOMARKERS FOR BREAST CANCER: A NARRATIVE REVIE Karunia, Karunia; Paramita, Rafika Indah; Panigoro, Sonar Soni
Biomedika Vol 18, No 1 (2026): Biomedika February 2026
Publisher : Universitas Muhammadiyah Surakarta

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Abstract

Breast cancer remains the most common malignancy among women worldwide and a leading cause of cancer-related mortality. Advances in epigenetics, particularly through the Epigenome-Wide Association Study (EWAS) approach, have provided new opportunities to identify epigenetic biomarkers for early detection, risk assessment, and therapeutic monitoring. This narrative review aims to describe the role of EWAS in identifying DNA methylation biomarkers relevant to breast cancer and to highlight current methodological challenges. Literature was retrieved from PubMed, ScienceDirect, and Google Scholar using the keywords “EWAS,” “breast cancer,” “DNA methylation,” and “epigenetic biomarker,” focusing on studies published between 2015 and 2025. Findings indicate that EWAS can reveal methylation patterns associated with cancer risk, prognosis, and potential for noninvasive detection, with alterations detectable even before clinical onset. Several candidate biomarkers identified include methylation changes in genes such as BRCA1, RASSF1A, CDH1, and APC, as well as specific CpG sites associated with hormonal exposure and lifestyle-related risk factors. Despite technological advances in microarray platforms and bioinformatics, many studies still face issues such as cross-sectional design, cellular heterogeneity, and limited replication. These challenges highlight the need for standardized analytical pipelines, larger longitudinal cohorts, and multi-omics integration to improve the reliability and clinical applicability of EWAS findings. Nevertheless, with growing standardization and integration of multi-omics data, EWAS holds significant promise for advancing precision medicine toward more predictive and preventive breast cancer care