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Formerly Journal of Turgut Ozal Medical Center - ISSN 1300-1744

  • Annals of Medical Research



    Annals of Medical Research International Monthly Published Medical Journal

  • Annals of Medical Research

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  • Annals of Medical Research


    Annals of Medical Research indexed in TÜBİTAK/ULAKBİM Tıp Veri Tabanı

  • Annals of Medical Research


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  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research

Dear readers,

Our journal is the official publication of Inonu University Medical Faculty and published uninterruptedly for 25 years. It was first published as the name of Inonu University Medical Journal and later as Journal of Turgut Ozal Medical Center. During its publication period, the journal accepted Turkish or English articles for publication.

Abstracting in an international index is just a paramount objective in the 25th year of the journal. Because of this goal, it was necessary to make a decision both in terms of journal name and publication language. It was important in this respect that the name of a general medical journal should be related to medicine again and it should be in English. For these reasons, the name of the journal was switched to Annals of Medical Research and its publication language is changed to in English. The logo of the journal was chosen as an apricot, which is the symbol of our city Malatya, the world capital of apricot. I hope the journal succeeds with its new name. Annals of Medical Research is published monthly.

Editor-in-Chief

 

Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients (p.120-4)

Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients (p.120-4)

Ahmet Cevdet Ceylan1,2, Busranur Cavdarli2
1Department of Medical Genetic, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey
2Department of Medical Genetic, Ankara City Hospital, Ankara, Turkey
Copyright@Author(s) - Available online at www.annalsmedres.org
Content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Abstract

Aim: Hereditary breast cancer is one of the components of hereditary breast-over cancer syndrome (HBOC) that results with multiple cancer predisposition. Heterozygous mutations of BRCA1 and BRCA2 that have crucial roles in DNA repair are responsible for about 12-25% of the patients. 25 different genes have been identified to be a causal factor in the patients whose BRCA tests are negative. Most of these genes are involved in functionally related genome maintenance pathways with BRCA1 and BRCA2. We aimed to investigate genes other than BRCA1/2 to determine breast cancer etiology.
Materials and Methods: Of the 230 patients diagnosed with breast cancer, 38 patients with no mutation in BRCA1 / 2 were evaluated. Hereditary breast cancer panel was designed with QIAseq solution. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight analyze software.
Results: The genes associated with hereditary breast cancer were studied with the new generation sequencing method in 38 of the patients without pathogenic or VUS variants. Pathogenic/likely pathogenic variants were detected in 3 (7.8%) of 38 patients, while VUS was detected in 10 (26.3%) patients. Of these 22 genes, c.312C>A (p.Tyr90Ter) in MUTY, c.1225C>T (p.Arg409Trp) in STK11, c.1690C>T (p.Gln564Ter) variant in BARD1 interpreted as pathogenic.
Conclusion: Our data provide insight into the genetics of HBOC syndrome in Turkey. These studies will help to improve the clinical management and better risk assessment of hereditary breast and ovarian cancer.

Keywords: Hereditary breast-over cancer syndrome; hereditary cancer panel; next generation sequencing

 

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doi:10.5455/annalsmedres.2020.04.415

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Annals of Medical Research is the scientific official journal of the Inonu University Faculty of Medicine. It is published monthly. The essential aim of the Annals of Medical Research is to publish scientifically high quality clinical and experimental research articles on fields of medicine which can contribute to the literature data. In addition, review articles, case reports, editorials, letters to the editors and manuscripts on publication ethics and medical history, which can contribute to the education and practices of physicians and health sector professionals within the scope of the journal’s target audience and which can increase the level of scientific communication between the authors and readers, are included in the scope of the journal.

 

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