Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.C410delFs
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CHEK2

NM_007194.4:p.C410delFs

Associated Papers

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.

Lahtinen AK et al.

British Journal of Haematology, 2025

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › B

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.

Culliford R et al.

Nature Communications, 2024

39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.

Nurminen R et al.

Scientific Reports, 2024

38773237 (PubMed )
Supplement: 41598_2024_62296_MOESM2_ESM.xlsx › Supplementary_Table_8

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Germline whole genome sequencing in adults with multiple primary tumors.

Wang Y et al.

Familial Cancer, 2023

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.4

Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.

Lahtinen AK et al.

Bone Marrow Transplantation, 2023

36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1A

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Douglas SPM et al.

Scientific Reports, 2022

35739278 (PubMed )
Supplement: 41598_2022_14364_MOESM1_ESM.xlsx › Supplementary_table_1

Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.

Bono M et al.

Esmo Open, 2021

Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia.

Kolijn PM et al.

Frontiers in Oncology, 2021

34513715 (PubMed )
Supplement: Table_5.xlsx › Blad1

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB et al.

Bmc Cancer, 2019

30947698 (PubMed )
Supplement: 12885_2019_5494_MOESM10_ESM.docx

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Eliade M et al.

Oncotarget, 2017

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E et al.

Cancer Medicine, 2015

26155992 (PubMed )
Supplement: cam40004-1484-sd2.xlsx › supplementaryTab_S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."