68PD BRCA1/2 mutation analysis in Indonesian hereditary breast

Abstract

Background The contribution of genetic mutation associated with higher risks for Hereditary Breast and Ovarian Cancer Syndrome breast-ovarian cancers in the Indonesian population has been relatively unknown. Methods There were 41 unrelated cases from two cancer centers in Jakarta, Indonesia. The patients were characterised by their family history, which demonstrated that they had either moderate or high risks for breast cancer. BRCA1/2 mutation analyses were accomplished with direct sequencing. Results Deleterious mutations were found in one patient with large deletion in exon 15 of BRCA1. Forty-seven variants at BRCA2 genes were documented in 21 of 41 patients (51%). All variants were categorized as unclassified variants (VUSs). Two synonymous variants, c.3623A>G and c.4035T>C, were found in 5 patients. A variant, c.3396A>G was reported in 9 patients. One variant, c4600T>C, was found in a 38-year-old woman with family history of breast cancer. Four novel variants in BRCA2 gene were found: c.6718C>G, c.3281A>G, c.10176C>G, and c4490T>C, in 4 unrelated patients, all of whom had positive family history of breast cancer. Six different variants of BRCA1 were reported in 7 unrelated patients. Conclusions: In accordance to other studies in Asian population, our study showed more frequent variants in BRCA2 than BRCA1. Further studies involving larger hereditary breast cancer patients are still developing to reveal the contribution of BRCA1/2 mutations and/or other susceptibility genes among hereditary breast cancer patients in Indonesia. Legal entity responsible for the study : Dharmais Hospital, National Cancer Center and Mochtar Riady Comprehensive Cancer Center, Siloam Hospital Semanggi. Funding: Dharmais Hospital, National Cancer Center and Mochtar Riady Comprehensive Cancer Center, Siloam Hospital Semanggi. Disclosure All authors have declared no conflicts of interest.