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All Journal Jurnal Pembelajaran dan Biologi Nukleus Jurnal Kesehatan Jurnal Bioteknologi & Biosains Indonesia (JBBI) Jurnal Bioteknologi & Biosains Indonesia
Septi, Annisa Frastica
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Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Education Environmental Science Health Professions Immunology & microbiology Languange, Linguistic, Communication & Media Nursing Public Health

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Pengaruh Variasi Gen CYP2D6 Terhadap Terapi Tamoxifen Pada Pasien Kanker Payudara di Kawasan Asia Septi, Annisa Frastica; Zahra, Aliya Azkia; Malau, Jekmal
Jurnal Kesehatan Vol 13 No 1 (2024): Jurnal Kesehatan
Publisher : STIKES Ngesti Waluyo

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.46815/jk.v13i1.251

Abstract

reast cancer is one of the most prevalent cancers in society, especially among women. Tamoxifen is often used as a first-line therapy for breast cancer and reduces the risk of recurrence in ER+ breast cancer. However, the response to treatment varies due to genetic variability resulting from polymorphisms in the DNA encoding drug-metabolism enzymes, including the CYP2D6 gene. This literature review aimed to evaluate the impact of CYP2D6 gene variants on the effectiveness of tamoxifen in breast cancer treatment. A literature search was conducted through PubMed, Google Scholar, and BMC Cancer using relevant keywords. The selected articles were no more than ten years old (2014-2024), with criteria for inclusion and exclusion. The review of articles from various research journals found that in the Asian region, the CYP2D6 gene variant allele *10 was most frequently seen, resulting in Intermediate Metabolism (IM) in tamoxifen therapy. Patients with IM metabolism tend to have suboptimal therapeutic responses and require tamoxifen dose adjustments.Conversely, patients with Normal Metabolism (NM/EM) tend to have better therapeutic responses. Genetic variability in the CYP2D6 gene affects the activity of the CYP2D6 enzyme, which functions to convert tamoxifen into its active form, Endoxifen. Some individuals may have low (Poor Metabolizer), Intermediate (Intermediate Metabolizer), Normal (Extensive Metabolizer), or even high (Ultra-rapid Metabolizer) enzyme activity. Therefore, adjusting tamoxifen therapy based on patient genetic information is essential for optimal treatment, especially in Asia, where the CYP2D6 gene variant allele *10 is most commonly found, resulting in IM metabolism
The Influence of Genetic Variations in CYP1A2 Associated with Clozapine Metabolism in Schizophrenia Patients Annajla, Fathina; Septi, Annisa Frastica; Meilani, Nanda Diva; Zahro, Aurora Fatimatuz
JURNAL PEMBELAJARAN DAN BIOLOGI NUKLEUS Vol 10, No 3: Jurnal Pembelajaran Dan Biologi Nukleus November 2024
Publisher : Universitas Labuhanbatu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36987/jpbn.v10i3.6182

Abstract

Schizophrenia is a severe mental disorder that affects how a person thinks, feels, and behaves. Antipsychotic drugs are the treatment of choice for patients with schizophrenia. Clozapine is an atypical antipsychotic with unique efficacy in treatment-resistant schizophrenia. However, genetic variations in CYP1A2 can influence the differences in the activity of this enzyme, which in turn can affect the metabolism of clozapine and the response to treatment. This review aims to examine the impact of CYP1A2 genetic variations on clozapine metabolism in patients with schizophrenia. This review is prepared using the narrative literature review method, literature search was conducted through PubMed over the past ten years (2014-2024) using relevant keywords. The findings indicate that CYP1A2 genetic variations *1F is an ultrarapid metabolizer whose activity is strengthened by the presence of cigarettes, while *1C and *1D shows a decrease in CYP1A2 enzyme metabolism. This review underscores the importance of considering genetic factors, particularly CYP1A2, in tailoring treatment plans for schizophrenia patients
DEVELOPMENT OF PLASMID-BASED FOR EXTERNAL CONTROL MATERIALS OF CYP2D6*10 (rs1065852) GENE PCR-BASED DETECTION Malau, Jekmal; Zahra, Aliya Azkia; Kasasiah, Ahsanal; Rahmasari, Ratika; Raekiansyah, Muhareva; Rohmah, Siti; Meilani, Nanda Diva; Septi, Annisa Frastica; Zahro, Aurora Fatimatuz; Annajla, Fathina; Hermosaningtyas, Anastasia Aliesa; Hilmi, Indah Laily
Jurnal Bioteknologi & Biosains Indonesia (JBBI) Vol. 10 No. 2 (2023)
Publisher : BRIN - Badan Riset dan Inovasi Nasional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55981/jbbi.2023.2557

Abstract

Reliable clinical diagnosis of Single Nucleotide Polymorphisms (SNPs) is necessary for personalizing tamoxifen medication according to CYP2D6*10 genetic variations. Our research aimed to create a recombinant plasmid for external control material with a molecular size of 3812 bp. The recombinant plasmid was achieved by cloning an 838 bp gene insert of CYP2D6*10 rs1065852 into a 2974 bp pJET1.2 plasmid into Escherichia coli DH10B and selection on ampicillin agar medium. Isolated E. coli recombinants provided the plasmid molecules for analysis. Bi-directional sequencing and Real-Time PCR confirmed the presence of wild-type and mutant rs1065852 DNA fragments in the plasmid, namely homozygote CC and TT. The conclusion is that we have successfully introduced a novel recombinant plasmid developed by cloning the SNP rs1065852, which carries the 100C>T mutation, using pJET 1.2/blunt system, which could significantly enhance the accuracy of clinical SNP diagnostics for personalized medicine in breast cancer treatment.
DEVELOPMENT OF PLASMID-BASED FOR EXTERNAL CONTROL MATERIALS OF CYP2D6*10 (rs1065852) GENE PCR-BASED DETECTION Malau, Jekmal; Zahra, Aliya Azkia; Kasasiah, Ahsanal; Rahmasari, Ratika; Raekiansyah, Muhareva; Rohmah, Siti; Meilani, Nanda Diva; Septi, Annisa Frastica; Zahro, Aurora Fatimatuz; Annajla, Fathina; Hermosaningtyas, Anastasia Aliesa; Hilmi, Indah Laily
Jurnal Bioteknologi & Biosains Indonesia (JBBI) Vol. 10 No. 2 (2023)
Publisher : BRIN - Badan Riset dan Inovasi Nasional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55981/jbbi.2023.2557

Abstract

Reliable clinical diagnosis of Single Nucleotide Polymorphisms (SNPs) is necessary for personalizing tamoxifen medication according to CYP2D6*10 genetic variations. Our research aimed to create a recombinant plasmid for external control material with a molecular size of 3812 bp. The recombinant plasmid was achieved by cloning an 838 bp gene insert of CYP2D6*10 rs1065852 into a 2974 bp pJET1.2 plasmid into Escherichia coli DH10B and selection on ampicillin agar medium. Isolated E. coli recombinants provided the plasmid molecules for analysis. Bi-directional sequencing and Real-Time PCR confirmed the presence of wild-type and mutant rs1065852 DNA fragments in the plasmid, namely homozygote CC and TT. The conclusion is that we have successfully introduced a novel recombinant plasmid developed by cloning the SNP rs1065852, which carries the 100C>T mutation, using pJET 1.2/blunt system, which could significantly enhance the accuracy of clinical SNP diagnostics for personalized medicine in breast cancer treatment.
Co-Authors Ahsanal Kasasiah Annajla, Fathina Hermosaningtyas, Anastasia Aliesa Indah Laily Hilmi Jekmal Malau Meilani, Nanda Diva Muhareva Raekiansyah Rahmasari, Ratika Siti Rohmah Zahra, Aliya Azkia Zahro, Aurora Fatimatuz