Dr. Anikó Bozsik
As a senior scientist I am involved in routine diagnostics and scientific research. Diagnostics-related part of my work involves the detection of germline tumor susceptibility variants in patients with characteristic clinical syndromes, mainly focusing on breast cancer and colorectal cancer cases, but also including rare cancer syndromes, i. e. endocrine and multiplex tumors.
My research activities aim at functional evaluation of germline variants with clinically uncertain significance. This involves comprehensive interpretation of multi-layer evidence harnessing in silico predictions, transcript-level studies as well as tumor DNA analysis and family characteristics. Besides translational research, my interest extends to basic knowledge, such as alternative and aberrant splicing patterns and regulations, as well as the extent and conditions of nonsense-mediated decay.
Anikó Bozsik, János Papp, Vince Kornél Grolmusz, Attila Patócs, Edit Oláh, Henriett Butz. Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study. Cancer Res Treat. 2022 Feb 8. doi: 10.4143/crt.2021.1078. Online ahead of print.
Tímea Pócza, Vince Kornél Grolmusz, János Papp, Henriett Butz, Attila Patócs, Anikó Bozsik. Germline Structural Variations in Cancer Predisposition Genes. Review. Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217. eCollection 2021.
Vince Kornél Grolmusz, Anikó Bozsik, János Papp, Attila Patócs. Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification. Review. Front Immunol. 2021 Mar 8;12:653489. doi: 10.3389/fimmu.2021.653489. eCollection 2021.
Annamária Kövesdi, Miklós Tóth, Henriett Butz, Nikolette Szücs, Beatrix Sármán, Péter Pusztai, Judit Tőke, Péter Reismann, Mónika Fáklya, Géza Tóth, Anikó Somogyi, Katalin Borka, Annamária Erdei, Endre V Nagy, Veronika Deák, Zsuzsanna Valkusz, Péter Igaz, Attila Patócs, Vince Kornél Grolmusz. True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome. Endocrine. 2019 Aug;65(2):451-459. doi: 10.1007/s12020-019-01932-x.
Vince Kornél Grolmusz, Annamária Kövesdi, Katalin Borks, Peter Igaz, Attila Patócs. Prognostic relevance of proliferation-related miRNAs in pancreatic neuroendocrine neoplasms. Eur J Endocrinol. 2018 Oct 1;179(4):219-228. doi: 10.1530/EJE-18-0305.