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Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos

Received: 6 July 2019     Accepted: 25 July 2019     Published: 10 August 2019
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Abstract

The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.

Published in Cancer Research Journal (Volume 7, Issue 3)
DOI 10.11648/j.crj.20190703.12
Page(s) 79-86
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2019. Published by Science Publishing Group

Keywords

Hereditary Breast and Ovarian Cancer Syndrome (HBOC), BRCA1 and BRCA2 Genes, Next Generation Sequencing (NGS), Filipino Breast Cancer

References
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Cite This Article
  • APA Style

    Francisco Tria IV, Daphne Ang, Jose Jasper Andal, Frances Victoria Que, Loraine Kay Cabral, et al. (2019). Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos. Cancer Research Journal, 7(3), 79-86. https://doi.org/10.11648/j.crj.20190703.12

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    ACS Style

    Francisco Tria IV; Daphne Ang; Jose Jasper Andal; Frances Victoria Que; Loraine Kay Cabral, et al. Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos. Cancer Res. J. 2019, 7(3), 79-86. doi: 10.11648/j.crj.20190703.12

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    AMA Style

    Francisco Tria IV, Daphne Ang, Jose Jasper Andal, Frances Victoria Que, Loraine Kay Cabral, et al. Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos. Cancer Res J. 2019;7(3):79-86. doi: 10.11648/j.crj.20190703.12

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  • @article{10.11648/j.crj.20190703.12,
      author = {Francisco Tria IV and Daphne Ang and Jose Jasper Andal and Frances Victoria Que and Loraine Kay Cabral and Rosil Dimalibot and Rachelle Arah Salamat and Ma. Luisa Enriquez and Sharlynne Bandales and Raymundo Lo and Manuelito Madrid and Marcelo Imasa and Rubi Li},
      title = {Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos},
      journal = {Cancer Research Journal},
      volume = {7},
      number = {3},
      pages = {79-86},
      doi = {10.11648/j.crj.20190703.12},
      url = {https://doi.org/10.11648/j.crj.20190703.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.crj.20190703.12},
      abstract = {The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.},
     year = {2019}
    }
    

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    AU  - Daphne Ang
    AU  - Jose Jasper Andal
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    AU  - Loraine Kay Cabral
    AU  - Rosil Dimalibot
    AU  - Rachelle Arah Salamat
    AU  - Ma. Luisa Enriquez
    AU  - Sharlynne Bandales
    AU  - Raymundo Lo
    AU  - Manuelito Madrid
    AU  - Marcelo Imasa
    AU  - Rubi Li
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    AB  - The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.
    VL  - 7
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Author Information
  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Department of Medical Oncology, St. Luke’s Medical Center, Quezon City, Philippines

  • Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines

  • Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines

  • Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines

  • Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines

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