Publications by authors named "Hulya Yazici"

Article Synopsis
  • * Using techniques like Next-Generation Sequencing (NGS) and RT-PCR, researchers found that four variants were pathogenic and affected splicing, while three did not have any significant impact.
  • * The findings underscore the need for experimental validation of splice-site variants, as they may influence genetic disorders and cancer risk, calling for further research into alternative splicing to explore potential therapies for cancer.
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  • * This study highlights a case of a 16-year-old boy with gastric signet ring cells and a germline CDH1 pathogenic variant, along with a known family history of early gastric cancer.
  • * Managing the cancer risk for him and his 9-year-old sister also carrying the CDH1 variant posed significant challenges for both medical professionals and their family, illustrating the complexity of early-onset hereditary cancer risks.
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Sarcomas are malignant tumors that may metastasize and the course of the disease is highly aggressive in children and young adults. Because of the rare incidence of sarcomas and the heterogeneity of tumors, there is a need for non-invasive diagnostic and prognostic biomarkers in sarcomas. The aim of the study was to investigate the level of miR-218-5p in peripheral blood and tumor tissue samples of Ewing's sarcoma, osteosarcoma, spindle cell sarcoma patients, and healthy controls, and assessed whether the corresponding molecule was a diagnostic and prognostic biomarker.

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The identification of novel non-invasive biomarkers is imperative for the early diagnosis and monitoring of malignant melanoma. The objective of this study is to examine the expression levels of miR-155-5p, miR-181b-5p, and miR-454-3p in circulating cell-free RNA obtained from plasma samples of the 72 uveal malignant melanoma patients and to compare these levels with those of 72 healthy controls. The analysis showed that the expression level of the miR-181b-5p has increased 9.

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Purpose: This study aims to shed light on the rather neglected area of research of psychological distress in women facing genetic counselling in Turkey, where few institutions providing such counselling exist.

Methods: 105 breast cancer patients presenting for genetic testing completed a sociodemographic and clinical questionnaire as well as validated structured questionnaires including the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI-S/T) and the Health Motivation Sub-dimension of Champion's Health Belief Model Scale.

Results: 69.

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Ovarian cancer is typically diagnosed at an advanced stage, recurs early and often, and currently lacks effective treatment. Therefore, overall survival and progression-free survival are relatively short for this disease. Sensitive and specific biomarkers for early diagnosis and follow-up for effective treatment of the disease are currently lacking.

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Background: The goal of this study was to assess the clinicopathologic characteristics and prognostic variables in men with breast cancer (BC).

Methods: Clinical features, pathological characteristics, stage at diagnosis, and therapy data were noted. Survival analysis was performed using the log-rank technique and Cox regression model.

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Ovarian cancer (OC) ranks as the eighth most prevalent malignancy among women globally. The short non-coding RNA molecules, microRNAs (miRNAs) target multiple mRNAs and regulate the gene expression. Here in this study, we aimed to validate miR-3135b and miR-1273g-3p as novel biomarkers for prognostic and diagnostic factor OC.

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Hereditary Breast and Ovarian Cancer (HBOC) syndrome is characterized by an increased risk of developing breast cancer (BC) and ovarian cancer (OC) due to inherited genetic mutations. Understanding the genetic variants associated with HBOC is crucial for identifying individuals at high risk and implementing appropriate preventive measures. The study included 630 Turkish OC patients with confirmed diagnostic criteria of The National Comprehensive Cancer Network (NCCN) concerning HBOC.

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Article Synopsis
  • Retinoblastoma is a rare eye cancer in children caused by the inactivation of the RB1 gene, linked to genetic and epigenetic factors, specifically the methylation of the RB1 gene promoter.
  • A study screened 50 familial retinoblastoma patients for RB1 promoter methylation compared to 52 healthy controls matched by age, sex, and ethnicity, using real-time PCR.
  • The results showed no significant difference in methylation levels between the retinoblastoma patients (36.1%) and controls (33.9%), suggesting that RB1 promoter methylation does not affect the hereditary nature of the disease.
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The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm.

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Background: One of the main features of cancer, especially lung cancer (LC), is abnormal cell division. Abnormal expression of kinesin family member C1 (KIFC1/HSET), which is involved in mitotic cell division and ensures equatorial alignment of chromosomes during division, is observed in both premalignant and malignant lesions. There are no studies in the literature addressing the role of KIFC1 in the diagnosis and follow-up of LC.

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Background: The optimal surgical therapy for newly diagnosed breast cancer with germline mutations in susceptibility genes is still uncertain for many physicians. In this study, we aimed to determine the efficacy of breast conserving surgery (BCS) in breast cancer patients with or mutation by assessing its outcomes and locoregional recurrence (LR) rates.

Materials And Methods: Seventy-five patients operated with BCS or mastectomy for breast cancer between 2006 and 2017 and had or mutation were included in the study.

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Objective: Published studies on male breast cancer (MBC) and mutations are scarce and usually include, a small number of patients. The clinicopathological characteristics of mutant and wild-type MBC patients were compared in more than forty patients in this study.

Materials And Methods: A retrospective review of MBC patients' clinical and histopathological data was conducted.

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  • The study examines the prevalence of BRCA1/2 genetic variants in Tanzanian breast cancer patients, highlighting an increased risk associated with these variants.
  • Six pathogenic variants were identified among 100 patients, with most found in BRCA1, and the study noted a significant correlation between these variants and triple-negative breast cancer.
  • The findings suggest a high prevalence of BRCA1/2 variants in Tanzania, indicating the need for tailored genetic testing to improve breast cancer management in this population.
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Background: Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied for many years.

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MicroRNAs (miRNAs) are the non-coding RNAs that can both attach to the untranslated and coding sections of target mRNAs, triggering destruction or post-transcriptional alteration. miRNAs regulate various cellular processes such as immune function, apoptosis, and tumorigenesis. About 35,000 miRNAs have been discovered in the human genome.

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The most common gynecologic cancers detected in women in Turkey are uterine cancer, ovarian cancer, and cervical cancer. These data reported that a mean of 3800 individuals were diagnosed with uterine cancer, 2790 were diagnosed with ovarian cancer, and 1950 were diagnosed with cervical cancer, and 400 individuals were diagnosed with other gynecologic cancers each year in Turkey. A mean of 14.

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Objectives: Ovarian cancer is one of the most fatal gynecologic malignities. miR-16-5p, miR-17-5p, and miR-638 genes were found to have been associated with ovarian cancer in accordance with the data obtained from the previous microarray research performed by Tuncer et al. (J Ovarian Res 13(1):99, 2020).

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gene testing is a difficult, expensive, and time-consuming test which requires excessive work load. The identification of the gene mutations is significantly important in the selection of treatment and the risk of secondary cancer. We aimed to develop an algorithm considering all the clinical, demographic, and genetic features of patients for identifying the negativity in the present study.

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Purpose: Various molecular variations are known to result in different gene variants in the gene, known for its oncogenic transformation activity. The goal of this study was to investigate the p.Gly388Arg variant that plays role in the progression of cancer and retinal growth and may be an effective candidate variant in the Turkish population in retinoblastoma patients with no gene mutation.

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Article Synopsis
  • Ovarian cancer is often diagnosed late and has a low survival rate; this study utilizes monozygotic twins to explore the disease's epigenetic factors.
  • Researchers analyzed whole-genome methylation patterns in a family with MZ twins—one with ovarian cancer and healthy siblings—to identify key gene differences.
  • The study found significant methylation changes in 12 genes linked to biological processes, suggesting that these epigenetic markers could help in early diagnosis and monitoring of ovarian cancer.
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Background: Ovarian cancer is the second most common gynecologic cancer with high mortality rate and generally diagnosed in advanced stages. The 5-year disease-free survival is below 40%. MicroRNAs, subset of the non-coding RNA molecules, regulate the translation in post transcriptional level by binding to specific mRNAs to promote or degrade the target oncogenes or tumor suppressor genes.

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Background: The genetic risk communication from proband to relatives varies from family to family, and patients often need support with the communication of genetic test results and making decisions to manage hereditary cancer risks.

Objective: The aim of this study was to characterize the communication of BRCA1 or BRCA2 (BRCA1/2) genetic risk from proband to first-degree relatives (FDRs) using a social network framework.

Methods: We characterized network and nonnetwork factors to explore their association with which FDRs were told about the genetic risk and whether or not relatives underwent genetic testing.

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