Department of Cancer Genetics

Research activity

Research area

Development of new next generation sequencing (NGS) strategies for ultrasensitive profiling of mutations, including low-level mosaic mutations
Genetics of hereditary syndromes associated with tumor suppressor genes inactivation
Characterization of mosaicism and somatic mutations spectrum in tumors in patients with Tuberous Sclerosis Complex (TSC)
Identification of genes/mutations modifying phenotype in TSC patients
Genetics of tumorigenesis in skin

Keywords

Human molecular genomics
Medical genetics
Mosaicism
Cancer genomics
Bioinformatics
Ultrasensitive Next Generation Sequencing (NGS)
Somatic mutations
Skin tumors

Research Projects

Ultrasensitive profiling of mutations driving tumorigenesis in hereditary syndromes associated with tumor suppressor genes inactivation ; National Science Centre OPUS25, 2023/49/B/NZ5/03438, PI: Katarzyna Klonowska, PhD
Polyclonal somatic mutations drive TSC tumorigenesis; TSC Alliance (Silver Spring, MD, USA), Postdoctoral Fellowship Grant Award 2020, PI: Katarzyna Klonowska, PhD
The APOBEC3B deletion – analysis of its role in familial breast cancer predisposition and determination of its consequences on mRNA level; National Science Centre PRELUDIUM10, 2015/19/N/NZ5/02247, PI: Katarzyna Klonowska, PhD

Selected publications

Equal contribution - #; Corresponding author(s) - *

Huschner F#, Głowacka-Walas J#, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ*. Molecular EPISTOP: Comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years. Nature Communications, 2023, 14(1):7664. doi: 10.1038/s41467-023-42855-6 1
Giannikou K*, Klonowska K, Tsuji J, Wu S, Zhu Z, Probst CK, Kao KZ, Wu C, Rodig S, Marino-Enriquez A, Zen Y, Schaefer I, Kwiatkowski DJ*. TSC2 inactivation, low mutation burden, and high macrophage infiltration characterize hepatic angiomyolipomas. Histopathology, 2023, 83(4):569-581. doi: 10.1111/his.15005
Klonowska K*, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ*. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic Tuberous Sclerosis Complex. Am J Hum Genet, 2023, 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002
Klonowska K*, Grevelink JM, Giannikou K, Ogorek BA, Herbert ZT, Thorner AR, Darling TN, Moss J, Kwiatkowski DJ*. Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.J Clin Invest, 2022, 132(10):e155858. doi: 10.1172/JCI155858
Klonowska K, Thiele EA, Grevelink JM, Thorner AR, Kwiatkowski DJ*. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet, 2022, Sep;59(9):920-923. doi: 10.1136/jmedgenet-2021-108160
Adib E#, Klonowska K#, Giannikou K, Do KT, Pruitt-Thompson S, Bhushan K, Milstein MI, Hedglin J, Kargus KE, Sholl LM, Tsuji J, Hyman DM, Sisk A, Shapiro GI, Vargas HA, Harding JJ, Voss MH, Iyer G, Kwiatkowski DJ*. Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res, 2021, 27(14):3845-3853. doi: 10.1158/1078-0432.CCR-20-4548
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members, Kwiatkowski DJ*. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med, 2020, 22(9):1489-1497. doi: 10.1038/s41436-020-0823-4
El-Chemaly S*, Taveira-DaSilva A, Bagwe S, Klonowska K, Machado T, Lamattina AM, Goldberg HJ, Jones AM, Julien-Williams P, Maurer R, Rosas IO, Henske EP, Moss J, Kwiatkowski DJ*. Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial. Eur Respir J, 2020, 55(5):1902370. doi: 10.1183/13993003.02370-2019
Suszynska M*#, Kluzniak W#, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P*. BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.Cancers (Basel), 2019, 11(6):740. doi: 10.3390/cancers11060740
Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M*. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.Annu Rev Genomics Hum Genet, 2019, 20:217-240. doi: 10.1146/annurev-genom-083118-015354
Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P*. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.Gynecol Oncol, 2019, 153(2):452-462. doi: 10.1016/j.ygyno.2019.01.027
Klonowska K, Kluzniak W, Rusak B, Jakubowska A, Ratajska M, Krawczynska N, Vasilevska D, Czubak K, Wojciechowska M, Cybulski C, Lubinski J, Kozlowski P*. The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population.Oncotarget, 2017, 8(44):76357-76374. doi: 10.18632/oncotarget.19400
Klonowska K, Handschuh L, Swiercz A, Figlerowicz M, Kozlowski P*. MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency. Oncotarget, 2016, 7(41):67266-67276. doi: 10.18632/oncotarget.11646
Klonowska K, Czubak K, Wojciechowska M, Handschuh L, Zmienko A, Figlerowicz M, Dams-Kozlowska H, Kozlowski P*. Oncogenomic portals for the visualization and analysis of genome-wide cancer data.Oncotarget, 2016, 7(1):176-92. doi: 10.18632/oncotarget.6128
Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M, Zmienko A, Nowakowska B, Irminger-Finger I, Limon J, Kozlowski P*. Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. Scientific Reports, 2015, 5:10424. doi: 10.1038/srep10424
Marcinkowska-Swojak M#, Klonowska K#, Figlerowicz M, Kozlowski P*. An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs.Gene, 2014, 546(2):257-62. doi: 10.1016/j.gene.2014.05.072

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Department of Cancer Genetics

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Research activity

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