ArticleBreast cancer research and treatment2007
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.
Article in Breast cancer research and treatment, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 197 citations in OpenAlex.
- Prevalence of germline 113 cancer genes in healthy Indonesian hospital staff.Genes & genomics · 2026Article
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
- Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya.The Libyan journal of medicine · 2024Article
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
- BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.Pathology oncology research : POR · 2020Article
- P21 Ser31Arg and FGFR2 rs2981582 Polymorphisms as Risk Factors for Early Onset of Breast Cancer in Yogyakarta, Indonesia.Asian Pacific journal of cancer prevention : APJCP · 2019Article
- Spectrum and prevalence ofHereditary cancer in clinical practice · 2019Article
- Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.BMC cancer · 2017Article
- Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.Journal of medical genetics · 2016Review
- Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer.Journal of breast cancer · 2013Review
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study.Familial cancer · 2011Article
- Clinical and pathologic differences between BRCA1-, BRCA2-, and non-BRCA-associated breast cancers in a multiracial developing country.World journal of surgery · 2009Article
- Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.Familial cancer · 2009Article
- Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.Breast cancer research : BCR · 2008Article
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Specific mutations in BRCA1 and BRCA2 genes have been identified in specific populations and ethnic groups. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast cancers in the Indonesian population. One hundred-twenty moderate to high risk breast cancer patients were tested using PCR-DGGE, and any aberrant band was sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed on all samples to detect large deletions in the two genes. Twenty-three different mutations were detected in 30 individuals, ten were deleterious mutations and 20 were "unclassified variants" with uncertain clinical consequences. Three of seven (c.2784_2875insT, p.Leu1415X and del exon 13-15) and two of four (p.Glu2183X and p.Gln2894X) deleterious mutations that were found in BRCA1 and BRCA2 respectively, are novel. Several novel, pathogenic BRCA1 and BRCA2 germline mutations are found in early onset Indonesian breast cancer patients, these may therefore be specific for the Indonesian population.
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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.