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The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory

Nikolaos Tsoulos1, Konstantinos Agiannitopoulos1, Kevisa Potska1, Anastasia Katseli1, Christina Ntogka1, Georgia Pepe1, Dimitra Bouzarelou1, Athanasios Papathanasiou1, Dimitrios Grigoriadis1, Georgios N. Tsaousis1, Helen Gogas2, Theodore Troupis3, Konstantinos Papazisis4, Ioannis Natsiopoulos5, Vassileios Venizelos6, Kyriakos Amarantidis7, Stylianos Giassas8, Christos Papadimitriou9, Elena Fountzilas10, Maroulio Stathoulopoulou6, Anna Koumarianou11, Grigorios Xepapadakis8, Alexandru Blidaru12, Daniela Zob13, Oana Voinea14, Mustafa Özdoğan15, Mahmut Çerkez Ergören16, Alinta Hegmane17, Eirini Papadopoulou1, George Nasioulas1 and Christos Markopoulos3

Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice

Eirini Papadopoulou, PhD1 ; George Rigas, MD2; Elena Fountzilas, MD, PhD3 ; Anastasios Boutis, MD, PhD4; Stylianos Giassas, MD5;
Nikolaos Mitsimponas, MD, MSc6; Danai Daliani, MD7 ; Dimitrios C Ziogas, MD8; Michalis Liontos, MD, PhD9 ; Vasileios Ramfidis, MD, MSc10; Charalampos Christophilakis, MD11; Dimitris Matthaios, MD, PhD12; Theofanis Floros, MD13; Chrysiida Florou-Chatzigiannidou, MSc1; Konstantinos Agiannitopoulos, MSc, PhD1; Angeliki Meintani, MSc1; Aikaterini Tsantikidi, MSc1; Anastasia Katseli, PhD1 ; Kevisa Potska, MSc1; Georgios Tsaousis, MSc, PhD1 ; Vasiliki Metaxa-Mariatou, MSc1; and George Nasioulas, PhD1

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction

Dimitrios C. Ziogas 1,*,† , Eirini Papadopoulou 2,†, Helen Gogas 1 , Stratigoula Sakellariou 3, Evangellos Felekouras 4, Charalampos Theocharopoulos 1, Dimitra T. Stefanou 1, Maria Theochari 1, Ioannis Boukovinas 5, Dimitris Matthaios 6, Anna Koumarianou 7 , Eleni Zairi 8, Michalis Liontos 9 , Konstantinos Koutsoukos 9, Vasiliki Metaxa-Mariatou 2, George Kapetsis 2, Angeliki Meintani 2, Georgios N. Tsaousis 2 and George Nasioulas 2

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing

Konstantinos Agiannitopoulos 1,*,Kevisa Potska 1,Anastasia Katseli 1,Christina Ntogka 1,Georgios N. Tsaousis 1ORCID,Georgia Pepe 1,Dimitra Bouzarelou 1,Nikolaos Tsoulos 1ORCID,Athanasios Papathanasiou 1ORCID,Dimitrios Ziogas 2ORCID,Vassileios Venizelos 3,Christos Markopoulos 4,Rodoniki Iosifidou 5,Sofia Karageorgopoulou 6,Stylianos Giassas 6,Ioannis Natsiopoulos 7,Konstantinos Papazisis 8,Maria Vasilaki-Antonatou 9,Amanta Psyrri 10,Anna Koumarianou 10ORCID,Dimitrios Matthaios 11,Eleni Zairi 12,Alexandru Blidaru 13,Eugeniu Banu 14,Dan Corneliu Jinga 15,Şahin Laçin 16,Mustafa Özdoğan 17,Eirini Papadopoulou 1 and George Nasioulas

RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis

AIKATERINI TSANTIKIDI1 , KONSTANTINOS PAPAZISIS2 , THEOFANIS FLOROS3 , MARIA GAZOULI4 , EIRINI PAPADOPOULOU1 , GEORGIOS TSAOUSIS1 , GEORGIOS NASIOULAS1 , ANDRA MESTER5 , KUBELAC PAUL MILAN5 , BOGDAN GOZMAN6 , VLAD AFRASANIE6 , DANA LUCIA STANCULEANU7 , OANA TRIFANESCU7 , FLORENTINA PESCARU8 , CLAUDIA MILITARU9 and CHRISTOS PAPADIMITRIOU1

Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing

KONSTANTINOS AGIANNITOPOULOS1, GEORGIA PEPE1, GEORGIOS N. TSAOUSIS1, KEVISA POTSKA1, DIMITRA BOUZARELOU1, ANASTASIA KATSELI 1, CHRISTINA NTOGKA1, ANGELIKI MEINTANI 1, NIKOLAOS TSOULOS1, STYLIANOS GIASSAS2, VASSILEIOS VENIZELOS3, CHRISTOS MARKOPOULOS4, RODONIKI IOSIFIDOU5, SOFIA KARAGEORGOPOULOU2, CHRISTOS CHRISTODOULOU3, IOANNIS NATSIOPOULOS6, KONSTANTINOS PAPAZISIS7, MARIA VASILAKI-ANTONATOU8, ELEFTHERIOS KABLETSAS9, AMANTA PSYRRI 10, DIMITRIOS ZIOGAS11, EFTHALIA LALLA4, ANNA KOUMARIANOU10, KORNILIA ANASTASAKOU3, CHRISTOS PAPADIMITRIOU12, VAHIT OZMEN13, SUALP TANSAN14, KERIM KABAN15, TAHSIN OZATLI 16, DAN TUDOR ENIU17, ANGELICA CHIOREAN18, ALEXANDRU BLIDARU19, MARRIT RINSMA20, EIRINI PAPADOPOULOU1 and GEORGE NASIOULAS1

Application of next generation sequencing in cardiology: current and future precision medicine implications

Eirini Papadopoulou1 *, Dimitra Bouzarelou1 , George Tsaousis1 , Athanasios Papathanasiou1 , Georgia Vogiatzi2 , Charalambos Vlachopoulos3 , Antigoni Miliou3 , Panagiota Papachristou4 , Efstathia Prappa5 , Georgios Servos6 , Konstantinos Ritsatos7 , Aristeidis Seretis7 , Alexandra Frogoudaki8 and George Nasioulas1

Genetic Predisposition to Male Breast Cancer: A Case Series

Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Georgios N. Tsaousis, Panagiota Pitta, Chrysanthi Bili, Lina Florentin, Emmanouel Saloustros, Eleftherios Kampletsas, Dimitrios Tryfonopoulos, Nikolaos Tsoukalas, Evangelos Bournakis, Flora Zagouri, Athanassios Kotsakis, Anna Koumarianou, Ippokratis Korantzis, Ioannis Boukovinas, George Lypas, Georgios Fountzilas, Vasiliki Michalaki, Spyridon Xynogalos, Helena Linardou, Eirini Papadopoulou, George Nasioulas and Vassilis Georgoulias

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia

Konstantinos Agiannitopoulos, Georgios N. Tsaousis , Kevisa Potska , Eirini Papadopoulou , Anna Douka, George Nasioulas , Iphigenia Gintoni , Christos Yapijakis

The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine

Eirini Papadopoulou a,* , Georgia Pepe a , Spiridon Konitsiotis b , Maria Chondrogiorgi b , Nikolaos Grigoriadis c , Vasilios K. Kimiskidis d , Georgios Tsivgoulis e , Dimos D. Mitsikostasf , Elisabeth Chroni g , Eleni Domouzoglou h , Georgios Tsaousis a , Georgios Nasioulas a

CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome: A case report

Despina Apostolopoulou1 ; Mustafa Özdoğan2 ; Konstantinos Agiannitopoulos1 *; Georgia Pepe1 ; Kevisa Potska1 ; Georgios N Tsaousis1 ; Nikolaos Tsoulos1 ; Eleni Patsea3 ; Onder Kırca2 ; Muharrem Okan Çakır4 ; Eirini Papadopoulou1 ; George Nasioulas1

Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer

Vahit Ozmen, Ahmet Okay Caglayan, Kanay Yararbas, Cetin Ordu, Fatma Aktepe, Tolga Ozmen, Ahmet Serkan Ilgun, Gursel Soybir, Gul Alco, Georgios N Tsaousis, Eirini Papadopoulou, Konstantinos Agiannitopoulos, Georgia Pepe, Stavroula Kampouri, George Nasioulas, Efe Sezgin, Atilla Soran

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Georgios N Tsaousis, Eirini Papadopoulou, Konstantinos Agiannitopoulos, Georgia Pepe, Nikolaos Tsoulos, Ioannis Boukovinas, Theofanis Floros, Rodoniki Iosifidou, Ourania Katopodi, Anna Koumarianou, Christos Markopoulos, Konstantinos Papazisis, Vasileios Venizelos, Achilleas Kapsimalis, Grigorios Xepapadakis, Amanda Psyrri, Eugeniu Banu, Dan Tudor Eniu, Alexandru Blidaru, Dana Lucia Stanculeanu, Andrei Ungureanu, Vahit Ozmen, Sualp Tansan, Mehmet Tekinel, Suayib Yalcin, George Nasioulas

Comprehensive tumor molecular profile analysis in clinical practice

Mustafa Özdoğan, Eirini Papadopoulou, corresponding author Nikolaos Tsoulos, Aikaterini Tsantikidi, Vasiliki-Metaxa Mariatou,Georgios Tsaousis, Evgenia Kapeni, Evgenia Bourkoula, Dimitrios Fotiou, Georgios Kapetsis, Ioannis Boukovinas, Nikolaos Touroutoglou, Athanasios Fassas, Achilleas Adamidis, Paraskevas Kosmidis, Dimitrios Trafalis, Eleni Galani,George Lypas, Bülent Orhan, Sualp Tansan, Tahsin Özatlı, Onder Kırca, Okan Çakır, and George Nasioulas

Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer

Konstantinos Agiannitopoulos, Georgia Pepe, Eirini Papadopoulou, Georgios N. Tsaousis, Stavroula Kampouri, Sonia Maravelaki, Athanassios Fassas, Christos Christodoulou, Rodoniki Iosifidou, Sofia Karageorgopoulou, Christos Markopoulos, Ioannis Natsiopoulos, Konstantinos Papazisis, Maria Vasilaki-Antonatou, Vassileios Venizelos, Vahit Ozmen, Sualp Tansan, Kerim Kaban, Dan Tudor Eniu, Angelica Chiorean and George Nasioulas

Report of a germline double heterozygote in MSH2 and PALB2

Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe,Stavroula Kampouri, Eleni Patsea, George Lypas

Clinical feasibility of NGS liquid biopsy analysis in NSCLC patients.

Eirini PapadopoulouID, Nikolaos Tsoulos, Katerina Tsantikidi, Vasiliki Metaxa- Mariatou,Pinelopi Eleftheria Stamou, Athina Kladi-Skandali, Evgenia Kapeni, Georgios Tsaousis

Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report

Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis G, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S and Nasioulas G, BMC Cancer 2019 19:535

Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.

Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Papadopoulou E, Metaxa-Mariatou V, Tsirigoti A, Efstathiadou C, Markopoulos C, Xepapadakis G, Venizelos V, Tsiftsoglou A, Natsiopoulos I, Nasioulas G.
Cancer Genet. 2018 Jan;220:1-12.

Tumor molecular profiling of NSCLC patients using next generation sequencing.

Tsoulos N, Papadopoulou E, Metaxa-Mariatou V, Tsaousis G, Efstathiadou C, Tounta G, Scapeti A, Bourkoula E, Zarogoulidis P, Pentheroudakis G, Kakolyris S, Boukovinas I, Papakotoulas P, Athanasiadis E, Floros T, Koumarianou A, Barbounis V, Dinischiotu A, Nasioulas G.
Oncol Rep. 2017 Dec;38(6):3419-3429.

Molecular predictive markers in tumors of the gastrointestinal tract.

Papadopoulou E, Metaxa-Mariatou V, Tsaousis G, Tsoulos N, Tsirigoti A, Efstathiadou C, Apessos A, Agiannitopoulos K, Pepe G, Bourkoula E, Nasioulas G.
World J Gastrointest Oncol. 2016 Nov 15;8(11):772-785. Review.

Determination of EGFR and KRAS mutational status in Greek non-small-cell lung cancer patients.

Papadopoulou E, Tsoulos N, Tsirigoti A, Apessos A, Agiannitopoulos K, Metaxa-Mariatou V, Zarogoulidis K, Zarogoulidis P, Kasarakis D, Kakolyris S, Dahabreh J, Vlastos F, Zoublios C, Rapti A, Papageorgiou NG, Veldekis D, Gaga M, Aravantinos G, Karavasilis V, Karagiannidis N, Nasioulas G.
Oncol Lett. 2015 Oct;10(4):2176-2184.

KRAS, NRAS and BRAF mutations in Greek and Romanian patients with colorectal cancer: a cohort study

Negru S, Papadopoulou E, Apessos A, Stanculeanu DL, Ciuleanu E, Volovat C, Croitoru A, Kakolyris S, Aravantinos G, Ziras N, Athanasiadis E, Touroutoglou N, Pavlidis N, Kalofonos HP, Nasioulas G.
BMJ Open. 2014 May 23;4(5):e004652.

Different genomic rearrangements account for 17% of BRCA1/2 mutations in Greece.

Angela Apessos, Eirini Papadopoulou, Vassiliki Metaxa-Mariatou, Konstantinos Agiannitopoulos et al.

Genekor

Posters

  1. 2024

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    The importance of pre- and post-genetic counselling for genetic testing in hereditary cancer

  2. 2024

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    Low level constitutional mosaicism in breast cancer patients

  3. 2024

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    MAPPING OF GENE VARIANTS IN 7,587 SUBJECTS REFERRED FOR HEREDITARY CANCER

  4. 2022

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    Polygenic Risk Score in a cohort of 105 Breast Cancer patients previously tested with a multi gene panel for hereditary cancer

  5. 2022

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    Next Generation Sequencing (NGS) for the identification of PARP inhibitors’ predictive biomarkers.

  6. 2022

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    Cascade genetic testing utilized only in 31% of initial families with pathogenic variants in breast cancer genes

  7. 2022

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    Copy Number Variations (CNVs) and Hereditary Breast Cancer

  8. 2019

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    Multigene panel testing results for hereditary breast cancer - ESMO 2019

  9. 2018

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    Tumor Mutational Burden TMB - poster at ECCB 2018

  10. 2017

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    Analysis of hereditary cancer syndromes by use of a panel of genes: More answers than questions

  11. 2016

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    BRCA Early Access program - poster at ECP

  12. 2014

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    CTRC-AACR San Antonio Breast Cancer Symposium 2014

  13. 2013

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    St. Gallen 2013 OncotypeDX

  14. 2013

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    St. Gallen 2013 BRCA

  15. 2012

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    EANO 2012

  16. 2012

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    ASCO 2012 EGFR

  17. 2012

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    ASCO 2012 ALK

  18. 2011

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    St. Gallen 2011

  19. 2011

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    ESMO 2011 ALK

  20. 2011

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    ESMO 2011 EGFR