Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y1252_K1253insFs
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ATM

NM_000051.4:p.Y1252_K1253insFs

Associated Papers

Utility of Polygenic Risk Scores (PRSs) in Predicting Pancreatic Cancer: A Systematic Review and Meta-Analysis of Common-Variant and Mixed Scores with Insights into Rare Variant Analysis.

Verras GI et al.

Cancers, 2025

Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.

Subramanian DN et al.

Npj Genomic Medicine, 2025

39794353 (PubMed )
Supplement: 41525_2024_447_MOESM1_ESM.pdf

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

Wieme G et al.

Cancers, 2021

34503238 (PubMed )
Supplement: cancers-13-04430-s001.zip › Supl_tables_zip_cancers › Suppl_Table_S4.xlsx › Blad1

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
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