BRCA1 and BRCA2 germline mutation analysis in the Indonesian population

Dewajani Purnomosari, Gerard Pals, Artanto Wahyono, Teguh Aryandono, Tjakra W. Manuaba, Samuel J. Haryono, Paul J. Van Diest

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)297-304
Number of pages8
JournalBreast Cancer Research and Treatment
Issue number2
StatePublished - Dec 2007
Externally publishedYes


  • BRCA1
  • BRCA2
  • Hereditary breast cancer
  • Mutation analysis

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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