Dr. Vehap Topçu

İnönü Üniversitesi Tıp Fakültesinden 2006 yılında mezun olduktan sonra, Ankara Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalında Tıbbi Genetik eğitimini tamamlayarak 2011 yılında Tıbbi Genetik Uzmanı olmuştur. Tıbbi Genetik Uzmanı olarak, Ankara’da, Dr. Zekai Tahir Burak Kadın Hastalıkları ve Doğum Hastanesi, Ankara Numune Eğitim ve Araştırma Hastanesi ve Bilkent Ankara Şehir Hastanelerinde çalışmıştır.
2014-15 yılında Harvard Üniversitesi, Joslin Diabetes Center’da İnsülin direncinin genetiği konusunda araştırmacı olarak çalışmıştır.
Nadir hastalıklar, tekrarlayan gebelik kaybı, infertilite, erken menopoz, prenatal tanı ve genetik danışmanlık alanlarında klinik tecrübesi bulunmaktadır. Karyotip analizi, FISH, kromozomal mikrodizin analizi ve tüm ekzom dizileme analizlerinde deneyim sahibidir.
Türkiye Tıbbi Genetik Derneği ve Avrupa İnsan Genetiği Topluluğu üyesidir.

• İnönü Üniversitesi Tıp Fakültesi (Malatya, 2006)
• Ankara Üniversitesi Tıp Fakültesi (Ankara, 2011)
• Joslin Diabetes Center (Harvard University) (Boston, 2015)

• İngilizce

• Reanalysis of whole-exome sequencing data of an infant with suspected diagnosis of Jeune syndrome revealed a likely pathogenic variant in GRK2: A newly associated gene for Jeune syndrome phenotype (Molecular Syndromology, 2024)
• Wilson disease in a Turkish population: Molecular insights into an old disease with reported and novel variants (Gazi Medical Journal, 2024)
• Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort (The Tohoku Journal of Experimental Medicine, 2023)
• Neurofibromatosis type 1 and type 2 (NF1 and NF2): Molecular genetic profiles of the patients (Acta Oncologica Turcica, 2023)
• A patient with Parkinson’s disease carrying a rare variant in the kinase domain of LRRK2 (Annals of Movement Disorders, 2023)
• A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene (Annals of Movement Disorders, 2023)
• Demir E, Doğulu N, Tuna Kırsaçlıoğlu C, Topçu V, Eminoglu F.T, Kuloğlu Z, Kansu A. A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3. 2023 Apr;14(2):136-142.
• Bahsi S, Bakır A, Topçu V, Bahsi T, Ergüder Bİ. Evaluation of Oxidant/Antioxidant System, IL-6 and IL-10 Parameters and SOD-Enzyme Activity in Pregnancy with Down Syndrome in Amnion Fluid Analysis. Gazi Med J 2022 Jan;33(1):53-57.
• The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum (Ann Hum Genet, 2021)
• High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (Am J Hum Genet, 2021)
• Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation (Neurology Asia, 2021)
• Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family (J Pediatr Endocrinol Metab, 2021)
• Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer (Asia Pac J Clin Oncol, 2022)
• A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? (Australas J Dermatol, 2019)
• Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines (Int J Dermatol, 2018)
• A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl (Int J Dermatol, 2019)
• A new familial case of Jalili syndrome caused by a novel mutation in CNNM4 (Ophthalmic Genet, 2017)
• Lumbosacral spina bifida in a case with Pallister-Killian syndrome (Cumhuriyet Medical Journal, 2016)
• A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome (J Turk Ger Gynecol Assoc, 2016)
• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease (Neuron, 2015)
• A Trisomy 13 Case Presenting with Congenital Diaphragmatic Hernia and Microphthalmia (Genet Couns, 2015)
• Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development (J Pediatr Endocrinol Metab, 2015)
• The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): clinical report (Am J Med Genet A, 2015)
• Severe insulin resistance alters metabolism in mesenchymal progenitor cells (Endocrinology, 2015)
• ADAMTS4 and ADAMTS5 knockout mice are protected from versican but not aggrecan or brevican proteolysis during spinal cord injury (Biomed Res Int, 2014)
• Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat (Genet Couns, 2014)
• Case report: partial trisomy 4q27q35 syndrome (Genet Couns, 2014)
• A potential association between the number of CA repeats in the promoter region of the ADAMTS9 gene with lymphatic metastasis of breast cancer (Turk J Med Sci, 2013)
• ADAMTS1, ADAMTS5, ADAMTS9 and aggrecanase-generated proteoglycan fragments are induced following spinal cord injury in mouse (Neurosci Lett, 2013)

• Tekrarlayan gebelik kaybı
• Erken menopoz
• Konjenital adrenal hiperplazi (KAH)
• Akraba evliliği öncesi genetik danışmanlık
• Evlilik öncesi genetik danışmanlık
• İnfertilite (Kısırlık)
• Ailede nadir (genetik) hastalık öyküsü
• Tekrarlayan (periyodik) ateş
• Genişletilmiş genetik hastalık taşıyıcılık taraması

• HRD testi: Kanser Tedavisinde Akıllı İlaç Kullanımı Nedir?