BRCA 1 and BRCA 2 Gene Sequencing in Indonesian Urban Women: Further Study of Noncommunicable Disease Research 2016

DOI

10.2991/ahsr.k.200215.109How to use a DOI?

Keywords

sequencing, BRCA 1, BRCA 2, urban women, NCD, Indonesia

Abstract

Introduction: BRCA1 and BRCA2 are genes associated with the risk of hereditary breast cancer, one of the most cancer found in Indonesian women. The study of the genetic pattern of BRCA1 and BRCA2 genes in the Indonesian population is still very limited. Therefore, the research purpose was to identify the mutation pattern on BRCA1 and BRCA2 genes in the population of Indonesian women a part of NCD study in 2016. Method: Total of 442 buffy coat specimens met the inclusion criteria were sequenced for BRCA1 and BRCA2 whole genes using the NGS method with the Miseq Illumina platform. The data were then analyzed using appropriate software. The ethical approval was obtained from NIHRD. Result: From all specimen, 15 mutations related to the progressive benign risk and 1 VUS were discovered on the BRCA 1 gene. Meanwhile, 27 mutations known as benign, 2 VUS, and 1 low pathogenic probability were found on the BRCA2 gene. Conclusion: In the Indonesian population, there were mutation patterns on both BRCA1 and BRCA2 genes with benign and low pathogenic probability. These results can be the first step to identify the unique mutations within both genes in the Indonesian population. It also can be an initial step to design molecular diagnostic techniques, specifically for the entire Indonesian Population.

Copyright

© 2020, the Authors. Published by Atlantis Press.

Open Access

This is an open access article distributed under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).

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TY  - CONF
AU  - Kindi Adam
AU  - Holy Arif Wibowo
AU  - Rosa Adelina
AU  - Natalie Laurencia
AU  - Frans Dany
AU  - Setia Pramana
AU  - Annisa Muthiah
AU  - Rita Marleta
AU  - Sarwo Handayani
PY  - 2020
DA  - 2020/02/22
TI  - BRCA 1 and BRCA 2 Gene Sequencing in Indonesian Urban Women: Further Study of Noncommunicable Disease Research 2016
BT  - Proceedings of the 4th International Symposium on Health Research (ISHR 2019)
PB  - Atlantis Press
SP  - 563
EP  - 567
SN  - 2468-5739
UR  - https://doi.org/10.2991/ahsr.k.200215.109
DO  - 10.2991/ahsr.k.200215.109
ID  - Adam2020
ER  -