نقش ژن‌های BRCA1 و BRCA2 در ابتلاء به سرطان پستان

نوع مقاله : مروری

نویسندگان

1 دانشیار گروه هماتولوژی و انکولوژی، دانشکده پزشکی، دانشگاه فردوسی مشهد، مشهد، ایران.

2 استاد پژوهشکده فناوری زیستی، دانشگاه فردوسی مشهد، مشهد، ایران.

3 دانش آموخته دکترای اصلاح نژاد دام (ژنتیک مولکولی)، گروه علوم دامی، دانشکده کشاورزی،‌ دانشگاه فردوسی مشهد. مشهد، ایران.

چکیده

مقدمه: جهش‌های ژنی BRCA1 و BRCA2 در سلول‌های رده زایا، باعث خطر ابتلاء به سرطان پستان و تخمدان می‌شوند. ژن‌های BRCA1 و BRCA2، عامل 20% از موارد سرطان پستان ارثی هستند. اکثریت جهش‌های موجود در ژن‌های BRCA1 و BRCA2 باعث اتمام زودرس پروتئین می‌شوند. مطالعه حاضر با هدف بررسی نقش جهش‌های BRCA1/2 در ابتلاء به سرطان پستان و معرفی برخی جهش‌های مرتبط با این ژن‌ها انجام شد.
روش‌کار: در این مطالعه مروری سیستماتیک اطلاعات مربوط به نقش ژن‌های BRCA1/2 در ابتلاء به سرطان پستان از طریق جستجو در پایگاه‌های اطلاعاتیPubMed ، Scopus، MedLine، Web of Science، Science Iranian Database و وب ‌سایت‌های مرتبط با موضوع مورد مطالعه با استفاده از کلید واژه‌هایBRCA mutation، BRCA1، BRCA2، سرطان پستان و ایران جستجو شدند. بازه زمانی در انتخاب مقالات از سال 1990 الی 2015 بود. از بین مقالات، به 88 مقاله در متن استناد شد. در انتخاب مقالات بر ژن‌های BRCA1 و BRCA2 و اهمیت آن در ابتلاء به سرطان پستان آن‌ها توجه شد.
یافته‌ها: این مقاله مروری اهمیت بیش از پیش شناسایی جهش‌های ژنی ناقلین BRCA1 و BRCA2 را در جوامع مختلف و به‌ویژه ملی را نشان می دهد و لزوم برنامه‌ریزی برای خانواده‌هایی با تاریخچه فامیلی سرطان پستان و همچنین غربالگری برای جهش‌های این دو ژن در برنامه‌های بالینی کشور کاملاً احساس می شود.
نتیجه‌ گیری: ژن‌های BRCA1/2 اهمیت و تأثیر زیادی در بروز و پیشرفت سرطان پستان دارند و می‌توان این ژن‌ها را به عنوان شاخص‌های مولکولی در تشخیص زودهنگام سرطان پستان در نظر گرفت.

کلیدواژه‌ها

عنوان مقاله [English]

Role of BRCA1 and BRCA2 genes in risk of breast cancer

نویسندگان [English]

  • Mohammad Mahdi Kooshyar 1
  • Mohammad Reza Nasiri 2
  • Khadijeh Nasiri 3
1 Associate Professor, Department of Hematology and Oncology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2 Professor, Institute of biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
3 Ph.D Student in Animal Breeding (Molecular Genetics), Department of Animal Science, School of Agriculture, Ferdowsi University of Mashhad, Mashhad, Iran.
چکیده [English]

Introduction: Gene mutations of BRCA1 and BRCA2 in germline can cause risk of breast and ovarian cancers. BRCA1 and BRCA2 genes cause 20% of hereditary breast cancer. The majority of BRCA1 and BRCA2 mutations lead to premature protein termination. This study was performed with aim to investigate the role of BRCA1/2 mutations in risk of breast cancer and introduce some mutations associated with these genes.
Methods: In this systematic review, the information related to the role of BRCA1/2 genes in risk of breast cancer was obtained by searching in databases of PubMed, Scopus, Med-Line, Web of Science, Science Iranian Database and other related websites using the keywords of BRCA mutation, BRCA1, BRCA2, breast cancer and Iran during 1990 to 2015. Finally, 88 articles were chosen that were associated with BRCA1 and BRCA2 genes and their role in risk of breast cancer
Results: This review paper shows more than ever importance of identifying the gene mutations of BRCA1 and BRCA2 carriers in different societies, especially in national and the necessity of planning for families with family history of breast cancer and also screening for mutations in these two genes is felt in clinical programs of the country.
Conclusion: BRCA1/2 genes have great importance and impact on the development and progression of breast cancer. Therefore, these genes can be considered as molecular markers in early detection of breast cancer.

کلیدواژه‌ها [English]

  • BRCA1 gene
  • BRCA2 gene
  • Breast Cancer

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مجله زنان، مامایی و نازایی ایران
دوره 19، شماره 19
هفته سوم مرداد ماه 1395
مرداد 1395
صفحه 25-38

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