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Romana Kratochvílová

ORCID: 0000-0003-4606-1960
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A5058325332
Research Areas
  • BRCA gene mutations in cancer
  • Prenatal Screening and Diagnostics
  • Blood groups and transfusion
  • Nutrition, Genetics, and Disease
  • Parvovirus B19 Infection Studies
  • Pregnancy and preeclampsia studies
  • Genomics and Rare Diseases
  • DNA Repair Mechanisms
  • Genomics and Chromatin Dynamics
  • Maternal and Perinatal Health Interventions
  • Molecular Biology Techniques and Applications
  • Fetal and Pediatric Neurological Disorders
  • Immunodeficiency and Autoimmune Disorders
  • Genetics, Bioinformatics, and Biomedical Research
  • Growth Hormone and Insulin-like Growth Factors
  • Cancer Risks and Factors
  • Connective tissue disorders research
  • Medical and Biological Ozone Research
  • Assisted Reproductive Technology and Twin Pregnancy
  • Reproductive Health and Contraception
  • Gestational Diabetes Research and Management
  • Digestive system and related health
  • Cancer Genomics and Diagnostics
  • Ectopic Pregnancy Diagnosis and Management
  • Epigenetics and DNA Methylation

University Hospital Olomouc
 2011-2023

Palacký University Olomouc
 2015-2020

 Term planned delivery based on fetal growth assessment with or without the cerebroplacental ratio in low-risk pregnancies (RATIO37): an international, multicentre, open-label, randomised controlled trial
OPENALEX - Publications 
Marta Rial-Crestelo Marek Ľubušký M. Parra‐Cordero Ladislav Krofta Anna Kajdy and 69 more E. Zohav Elena Perez R. Cruz‐Martínez Marian Kacerovský E. Scazzocchio Lucie Roubalová P. Socias L. Hašlík Jan Modzelewski Eran Ashwal‏ Julia Castellá-Cesari M. Cruz‐Lemini E. Gratacós F. Figueras A Cancemi M. Giannone Ana Rosy Velasco-Santiago Beatriz Sánchez N. Izquierdo Cristina Cobos-Serrano Sonia Matías-Ponce Sonia Mayordomo-Gallardo Alicia Castejón-Abad Raigam-Jafet Martinez-Portilla Esther Crespo Mirasol Carmen España-Calancha Beatriz Lorente-Silva Marta Herrera-Julve Rocío Astudillo-Alonso Ilaria Bianchi Alex Biterna-Tejeiro V. Kroutilova Veronika Kolárová K Hermanová V. Durdová Romana Kratochvílová Michaela Maderkova-Tozzi Á. Sepúlveda‐Martínez Luis Aravena Javiera Urquieta Kateřina Macková Anna Brandejsová Monika Jakubiak-Proć Sys Dorota Katarzyna Muzyka-Placzyńska Michał Rabijewski Beata Mazur Lucasz Jóźwiak Dagmara Filipecka‐Tyczka Krzysztof Berbeka Lucasz Pydyś I. Gull Nina Krajden Haratz G. Malinger José-Luis Hernández-Sánchez María Prat-Om Ricardo Rubio-Salazar Carolina Rueda-García Maite López-Yarto-Elejabeitia Paula-Daniela Diaz-Rodríguez Antonio Payà Sophie Buob Erika Ros-de-los-Santos Andrea Garriga-Parra Margalida-Esperanza Sastre-Cuadri Miguel Martínez‐Rodríguez R. Villalobos‐Gómez H. López‐Briones E.L. Chávez‐González

10.1016/s0140-6736(23)02228-6 article EN The Lancet 2024-01-11
 RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin
OPENALEX - Publications 
Matous Palek Natalie Palkova Marta Černá Klara Horáčková Milena Hovhannisyan and 38 more Markéta Janatová Sandra Jelínková Petr Nehasil Jana Soukupová Barbora Šťastná Petra Zemánková Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renáta Michalovská Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Dušková Viktor Stránecký Petra Kleiblová Zdeněk Kleibl Libor Macůrek

Abstract RAD18 is an E3 ubiquitin ligase that prevents replication fork collapse by promoting DNA translesion synthesis and template switching. Besides this classical role, has been implicated in homologous recombination; however, function incompletely understood. Here, we show recruited to lesions monoubiquitination of histone H2A at K15 counteracts accumulation 53BP1. Super-resolution microscopy revealed localizes the proximity double strand breaks limits distribution 53BP1 peripheral...

10.1093/nar/gkae499 article EN cc-by Nucleic Acids Research 2024-06-13
 Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma
OPENALEX - Publications 
J Böhmová Marek Ľubušký I Holusková M Studničková Romana Kratochvílová and 6 more Eva Krejčiříková V. Durdová Romana Kratochvílová Ladislav Dušek Martin Procházka Radek Vodička

Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and fetus. This study aimed to assess methodological approach other than the commonly used one noninvasive on representative set of RhD-negative women. The methodology must be accurate, reliable, broadly available implementation into routine clinical practice. A total 337 women from Czech Republic region were tested in this study. genotype was assessed using two methods:...

10.3390/diagnostics10080564 article EN cc-by Diagnostics 2020-08-05
 Clinical Potential of Effective Noninvasive Exclusion of <b><i>KEL1</i></b>-Positive Fetuses in <b><i>KEL1</i></b>-Negative Pregnant Women
OPENALEX - Publications 
J Böhmová Radek Vodička Marek Ľubušký I Holusková M Studničková and 12 more Romana Kratochvílová Eva Krejčiříková Mária Janíková V. Durdová Tereza Dolezalová Hana Filipová Ladislav Dušek Ishraq Dhaifalah Katherine Vomáčková Marian Kacerovský Martin Procházka Radek Vrtěl

The clinical importance of assessing the fetal KEL genotype is to exclude 'K'-positive fetuses (genotype KEL1/KEL2) in 'K'-alloimmunized pregnant women KEL2/KEL2). Noninvasive assessment not yet available Czech Republic.The aim this study was assess KEL1/KEL2 from cell-free DNA plasma KEL2/KEL2 women.The assessed by minisequencing (a dilution series including control samples). A total 138 (between 8th and 23rd gestational week) were tested minisequencing. further verified analysis a buccal...

10.1159/000441296 article EN Fetal Diagnosis and Therapy 2015-10-22
 Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities
OPENALEX - Publications 
Zuzana Spurná Pavlína Čapková Lucia Punova Jana Duchoslavova Darina Aleksijevic and 13 more Petra Venháčová Josef Srovnal Júlia Štellmachová V Curtisová Veronika Bitnerová Jana Petřková Kristýna Kolaříková Mária Janíková Romana Kratochvílová Petr Vrtěl Radek Vodička Radek Vrtěl Jiřina Zapletalová

Congenital skeletal abnormalities are a heterogeneous group of diseases most commonly associated with small or disproportionate growth, cranial and facial dysmorphisms, delayed bone maturation, etc. Nonetheless, no detailed genotype-phenotype correlation in patients specific genetic variants is readily available. Ergo, this study focuses on the analysis patient phenotypes candidate genes involved growth as detected by molecular analysis. In we used methods to analyse ACAN, COL2A1, FGFR3,...

10.1016/j.gene.2023.147881 article EN cc-by Gene 2023-10-06
 P05.11: Effective and clinically applicable non‐invasive assessment of KEL1 positive fetuses in KEL1 negative “K” alloimmunised pregnant women
OPENALEX - Publications 
J Böhmová Marek Ľubušký V. Durdová I Holusková M Studničková and 2 more Romana Kratochvílová R. Vlk

The clinical importance of assessing the fetal KEL genotype is to diagnose “K” positive fetuses (genotype KEL1/KEL2) in alloimmunised pregnant women KEL2/KEL2). Just these (only 5%) are at risk hemolytic disease and anemia should be diagnosed by Doppler ultrasound measurement Middle Cerebral Artery Peak Systolic Velocity (MCA-PSV). Non-invasive assessment not standardly available date. aim this study assess KEL1/KEL2 from cell free DNA plasma KEL2/KEL2 women. was assessed TaqMan Real-Time...

10.1002/uog.15359 article EN Ultrasound in Obstetrics and Gynecology 2015-09-01
 Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Dušková Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Detail description of the functional categorization analyzed CHEK2 missense variants.&lt;/p&gt;

10.1158/1078-0432.23685621 preprint EN cc-by 2023-07-14
 Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Characteristics of 12 case-control datasets from the ENIGMA consortium partners.&lt;/p&gt;

10.1158/1078-0432.23685612.v1 preprint EN cc-by 2023-07-14
 Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Detail description of the functional categorization analyzed CHEK2 missense variants.&lt;/p&gt;

10.1158/1078-0432.23685621.v1 preprint EN cc-by 2023-07-14
 Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;List of all analyzed CHEK2 variants with results KAP1/CHK2 kinase and localization assays the from recent previously published functional analyses VUS.&lt;/p&gt;

10.1158/1078-0432.23685618 preprint EN cc-by 2023-07-14
 Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomáš Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Characteristics of 12 case-control datasets from the ENIGMA consortium partners.&lt;/p&gt;

10.1158/1078-0432.23685612 preprint EN cc-by 2023-07-14
 Data from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzová Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;div&gt;AbstractPurpose:&lt;p&gt;Germline pathogenic variants in &lt;i&gt;CHEK2&lt;/i&gt; confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced screening. Besides variants, dozens of missense uncertain significance (VUS) have been identified, hampering the clinical utility germline genetic testing (GGT).&lt;/p&gt;Experimental Design:&lt;p&gt;We collected 460 VUS identified by ENIGMA consortium 15 countries. Their functional characterization...

10.1158/1078-0432.c.6742698.v1 preprint EN 2023-07-14
 Table S3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Frequencies of all reported germline CHEK2 variant carriers and variants concordantly categorized by functional our kinase assays in breast cancer patients controls 12 analyzed population datasets.&lt;/p&gt;

10.1158/1078-0432.23685609 preprint EN cc-by 2023-07-14
 Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;List of all analyzed CHEK2 variants with results KAP1/CHK2 kinase and localization assays the from recent previously published functional analyses VUS.&lt;/p&gt;

10.1158/1078-0432.23685618.v1 preprint EN cc-by 2023-07-14
 Data from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renáta Michalovská Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;div&gt;AbstractPurpose:&lt;p&gt;Germline pathogenic variants in &lt;i&gt;CHEK2&lt;/i&gt; confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced screening. Besides variants, dozens of missense uncertain significance (VUS) have been identified, hampering the clinical utility germline genetic testing (GGT).&lt;/p&gt;Experimental Design:&lt;p&gt;We collected 460 VUS identified by ENIGMA consortium 15 countries. Their functional characterization...

10.1158/1078-0432.c.6742698 preprint EN 2023-07-14
 Table S3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Frequencies of all reported germline CHEK2 variant carriers and variants concordantly categorized by functional our kinase assays in breast cancer patients controls 12 analyzed population datasets.&lt;/p&gt;

10.1158/1078-0432.23685609.v1 preprint EN cc-by 2023-07-14
 Figure 3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
OPENALEX - Publications 
Lenka Stolařová Petra Kleiblová Petra Zemánková Barbora Šťastná Markéta Janatová and 95 more Jana Soukupová Maria Isabel Achatz Christine B. Ambrosone Paraskevi Apostolou Banu K. Arun Paul L. Auer Mollie E. Barnard Birgitte Bertelsen Koichi Matsuda Yoichiro Kamatani Takayuki Morisaki Akiko Nagai Kaori Muto Yoshinori Murakami Yoichi Furukawa Yuji Yamanashi Yusuke Nakamura Taisei Mushiroda Yukihide Momozawa Toshihiro Tanaka Yozo Ohnishi Michiaki Kubo Shinichi Higashiue Shuzo Kobayashi Shiro Minami Hiroki Yamaguhci Hajime Arai Ken Yamaji Yasushi Okazaki Satoshi Asai Yasuo Takahashi Tomoaki Fujioka Wataru Obara Seijiro Mori Shigeo Murayama Satoshi Nagayama Yoshio Miki Akihide Masumoto Akira Yamada Yasuko Nishizawa Masahiko Higashiyama Hiromu Kutsumi Yukihiro Koretsune Takashi Yoshiyama Marinus J. Blok Nicholas J. Boddicker Joan Brunet Elizabeth S. Burnside Mariarosaria Calvello Ian Campbell Sock Hoai Chan Fei Chen Jianbang Chiang Anna Coppa Laura Cortesi Ana Crujeiras-González Marianna Borecká Marta Černá Milena Hovhannisyan Sandra Jelínková Petr Nehasil Lenka Foretová Eva Macháčková Vera Krutilkova Spiros Tavandzis Leona Cerna Štěpán Chvojka Monika Koudová Alena Puchmajerová Ondřej Havránek Jan Novotný Kamila Veselá Michal Vočka Lucie Hrušková Renata Michalovska Denisa Schwetzova Zdeňka Vlčková Monika Černá Markéta Hejnalová Nikol Jedlickova Ivan Šubrt Tomas Zavoral Marcela Kosařová Gabriela Vacínová Mária Janíková Romana Kratochvílová Václava Curtisová Radek Vrtěl Ondřej Scheinost Petra Duskova Viktor Stránecký Kim De Leeneer Robin De Putter Allison DePersia Lisa Devereux

&lt;p&gt;Kinase KAP1 and CHK2 assays (&lt;b&gt;A&lt;/b&gt;). The bar graphs show results of kinase for 430 &lt;i&gt;CHEK2&lt;/i&gt; missense variants. In both assays, variants with normalized relative activity (mean WT-activity = 1) exceeding that the weakest signal WT replicas (not shown) were categorized functionally WT-like, intensity lower than strongest any kinase-dead/empty EGFP vector controls (in-frame exon 7 deletion–p.D265_H282del; not as impaired. Variants activities between these...

10.1158/1078-0432.23952444 preprint EN cc-by 2023-08-15
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