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Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females

BACKGROUND: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovar...

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Autores principales: Alyahri, Nora, Abdi, Saba, Khan, Wajahatullah, Elrobh, Mohamed, Addar, Mohammed H., Babay, Zeneb A., Alanazi, Mohamed, Aldaihan, Sooad, Shaik, Jilani, Arafah, Maha, Parine, Narasimha Reddy, Warsy, Arjumand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298454/
https://www.ncbi.nlm.nih.gov/pubmed/30820179
http://dx.doi.org/10.2478/jomb-2018-0037
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author Alyahri, Nora
Abdi, Saba
Khan, Wajahatullah
Elrobh, Mohamed
Addar, Mohammed H.
Babay, Zeneb A.
Alanazi, Mohamed
Aldaihan, Sooad
Shaik, Jilani
Arafah, Maha
Parine, Narasimha Reddy
Warsy, Arjumand
author_facet Alyahri, Nora
Abdi, Saba
Khan, Wajahatullah
Elrobh, Mohamed
Addar, Mohammed H.
Babay, Zeneb A.
Alanazi, Mohamed
Aldaihan, Sooad
Shaik, Jilani
Arafah, Maha
Parine, Narasimha Reddy
Warsy, Arjumand
author_sort Alyahri, Nora
collection PubMed
description BACKGROUND: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer. METHODS: Expression levels of mRNA of BRCA1 gene were studied in 10 ovarian cancer and 10 normal ovarian tissues, by quantitative real time polymerase chain reaction (qPCR). The study also included 28 females who had suffered from ovarian cancer and had been successfully operated upon and 90 healthy females with no history of cancer. Blood was drawn in EDTA tubes and used for extraction of DNA. The genotyping was carried out using Taqman® SNP Genotyping kit by RT-PCR. The variants investigated included c.871 T>C (rs799917), c.1040 G>A (rs4986852), c.181 T>G (rs28897672) in BRCA1 gene. RESULTS: The c.181 T>G (rs28897672) showed significantly different genotype and allele frequencies between the patients and the control subjects (p value = 0.002 and 0.02, respectively). The genotype TG was significantly protective (OR = 0.36, p value = 0.024). The mRNA expression of BRCA1 gene was found to be low in the ovarian cancer tissues. CONCLUSIONS: This study showed that c.181 T>G in BRCA1 genes is associated with the development of ovarian cancer in Saudis. More studies are needed to unveil other SNPs that may be associated with ovarian cancer and to understand the mechanism(s) involved in reducing the expression of BRCA1 gene in ovarian cancer tissues.
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spelling pubmed-62984542019-03-01 Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females Alyahri, Nora Abdi, Saba Khan, Wajahatullah Elrobh, Mohamed Addar, Mohammed H. Babay, Zeneb A. Alanazi, Mohamed Aldaihan, Sooad Shaik, Jilani Arafah, Maha Parine, Narasimha Reddy Warsy, Arjumand J Med Biochem Original Paper BACKGROUND: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer. METHODS: Expression levels of mRNA of BRCA1 gene were studied in 10 ovarian cancer and 10 normal ovarian tissues, by quantitative real time polymerase chain reaction (qPCR). The study also included 28 females who had suffered from ovarian cancer and had been successfully operated upon and 90 healthy females with no history of cancer. Blood was drawn in EDTA tubes and used for extraction of DNA. The genotyping was carried out using Taqman® SNP Genotyping kit by RT-PCR. The variants investigated included c.871 T>C (rs799917), c.1040 G>A (rs4986852), c.181 T>G (rs28897672) in BRCA1 gene. RESULTS: The c.181 T>G (rs28897672) showed significantly different genotype and allele frequencies between the patients and the control subjects (p value = 0.002 and 0.02, respectively). The genotype TG was significantly protective (OR = 0.36, p value = 0.024). The mRNA expression of BRCA1 gene was found to be low in the ovarian cancer tissues. CONCLUSIONS: This study showed that c.181 T>G in BRCA1 genes is associated with the development of ovarian cancer in Saudis. More studies are needed to unveil other SNPs that may be associated with ovarian cancer and to understand the mechanism(s) involved in reducing the expression of BRCA1 gene in ovarian cancer tissues. Sciendo 2019-03-01 /pmc/articles/PMC6298454/ /pubmed/30820179 http://dx.doi.org/10.2478/jomb-2018-0037 Text en © 2019 Nora Alyahri, Saba Abdi, Wajahatullah Khan, Mohamed Elrobh, Mohammed H. Addar, Zeneb A. Babay, Mohamed Alanazi, Sooad Aldaihan, Jilani Shaik, Maha Arafah, Narasimha Reddy Parine, Arjumand Warsy published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Original Paper
Alyahri, Nora
Abdi, Saba
Khan, Wajahatullah
Elrobh, Mohamed
Addar, Mohammed H.
Babay, Zeneb A.
Alanazi, Mohamed
Aldaihan, Sooad
Shaik, Jilani
Arafah, Maha
Parine, Narasimha Reddy
Warsy, Arjumand
Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title_full Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title_fullStr Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title_full_unstemmed Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title_short Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females
title_sort novel associations between brca1 variants c.181 t>g (rs28897672) and ovarian crisk in saudi females
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298454/
https://www.ncbi.nlm.nih.gov/pubmed/30820179
http://dx.doi.org/10.2478/jomb-2018-0037
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