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View article: 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
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 Open
Petra Zemánková, Barbora Šťastná, Paraskevi Apostolou, Paul L. Auer, Mollie E. Barnard , et al. · 2025
List of all analyzed CHEK2 variants with results of KAP1/CHK2 kinase and localization assays and the results from recent previously published functional analyses of the CHEK2 VUS.
View article: Table S2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Petra Kleiblová, Barbora Šťastná, Jana Soukupová, Maria Isabel Achatz, Birgitte Bertelsen , et al. · 2025
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice Open
Jeanette Yuen, Siqin Zhou, Rebecca Caeser, Mallika Venkatramani, Diana Ishak , et al. · 2025
View article: P633: Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast Asia*
P633: Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast Asia* Open
Sock Hoai Chan, Shu‐Kay Ng, Sylvia Kam, Jasmine Chew Yin Goh, A. H.-J. Wang , et al. · 2025
View article: P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia
P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia Open
Jeannette Goh, Saumya Shekhar Jamuar, Jiin Ying Lim, Annet Simons, Lisa Ewans , et al. · 2025
View article: Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia
Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia Open
Jeannette Goh, Jiin Ying Lim, Annet Simons, Lisa Ewans, Sylvia Kam , et al. · 2024
View article: Single-cell landscape of idiopathic multicentric Castleman disease in identical twins
Single-cell landscape of idiopathic multicentric Castleman disease in identical twins Open
Jason Yongsheng Chan, Jui Wan Loh, Jing Quan Lim, Herty Liany, Elizabeth Chun Yong Lee , et al. · 2024
Idiopathic multicentric Castleman disease (iMCD) is a rare cytokine-driven disorder characterized by systemic inflammation, generalized lymphadenopathy, and organ dysfunction. Here, we present an unusual occurrence of iMCD in identical twi…
View article: Figure 3 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Kinase KAP1 and CHK2 assays (A). The bar graphs show results of kinase assays for 430 CHEK2 missense variants. In both assays, variants with normalized relative CHK2 activity (mean WT-activity = 1) exceeding that of the weake…
View article: Figure 6 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 6 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Funnel plot (left) and forest plots (right) for individual datasets of breast cancer cases and controls from 12 datasets (10 countries) stratified according to the functional categorization.
View article: Data from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Purpose:Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2
View article: Figure 5 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 5 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Presence of analyzed CHEK2 missense variants categorized according to the functional assays in patients with breast cancer (BC pts; red numbers) and matched controls (dark green numbers). The association with breast cancer risk (odd…
View article: Table S1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
List of all analyzed CHEK2 variants with results of KAP1/CHK2 kinase and localization assays and the results from recent previously published functional analyses of the CHEK2 VUS.
View article: Table S2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: Figure 4 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 4 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Results of KAP1 and CHK2 kinase assays for 430 successfully analyzed missense CHEK2 variants (shown as an average relative CHK2 kinase activity). Bars are colored as functionally WT-like (green), intermediate (IM; yellow), and impai…
View article: Figure 4 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 4 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Results of KAP1 and CHK2 kinase assays for 430 successfully analyzed missense CHEK2 variants (shown as an average relative CHK2 kinase activity). Bars are colored as functionally WT-like (green), intermediate (IM; yellow), and impai…
View article: Supplementary Methods 1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Detail description of the functional categorization of analyzed CHEK2 missense variants.
View article: Figure 3 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Kinase KAP1 and CHK2 assays (A). The bar graphs show results of kinase assays for 430 CHEK2 missense variants. In both assays, variants with normalized relative CHK2 activity (mean WT-activity = 1) exceeding that of the weake…
View article: Table S1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
List of all analyzed CHEK2 variants with results of KAP1/CHK2 kinase and localization assays and the results from recent previously published functional analyses of the CHEK2 VUS.
View article: Supplementary Methods 1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Detail description of the functional categorization of analyzed CHEK2 missense variants.
View article: Table S2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: Figure 6 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 6 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Funnel plot (left) and forest plots (right) for individual datasets of breast cancer cases and controls from 12 datasets (10 countries) stratified according to the functional categorization.
View article: Figure 5 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 5 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Presence of analyzed CHEK2 missense variants categorized according to the functional assays in patients with breast cancer (BC pts; red numbers) and matched controls (dark green numbers). The association with breast cancer risk (odd…
View article: Figure 1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Geographical origin of analyzed CHEK2 missense variants.
View article: Figure 2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 2 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Validation of KAP1-pS473 and CHK2-pS516 antibodies. A, Parental RPE, RPE1–CHEK2-KO cells or RPE1–CHEK2-KO cells transfected with the wild-type or mutant pEGFP–CHEK2 were left untreated or were exposed to ionizing radiation (5 Gy, 3 …
View article: Figure 2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 2 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Validation of KAP1-pS473 and CHK2-pS516 antibodies. A, Parental RPE, RPE1–CHEK2-KO cells or RPE1–CHEK2-KO cells transfected with the wild-type or mutant pEGFP–CHEK2 were left untreated or were exposed to ionizing radiation (5 Gy, 3 …
View article: Table S3 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Frequencies of all reported germline CHEK2 variant carriers and carriers of variants concordantly categorized by functional our kinase assays in breast cancer patients and controls in 12 analyzed population datasets.
View article: Figure 1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Geographical origin of analyzed CHEK2 missense variants.
View article: Table S3 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Frequencies of all reported germline CHEK2 variant carriers and carriers of variants concordantly categorized by functional our kinase assays in breast cancer patients and controls in 12 analyzed population datasets.
View article: Table S2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: Table S2 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk
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 Open
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová , et al. · 2023
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.




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