Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2408L
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ATM

NM_000051.4:p.S2408L

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Supplemental_Figure_3_OC_data

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

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

Molecular and Radiological Features of Microsatellite Stable Colorectal Cancer Cases With Dramatic Responses to Immunotherapy.

Keenan BP et al.

Anticancer Research, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s009.xlsx › Sheet1

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma.

Song YS et al.

Cancers, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Suhaimi SS et al.

Frontiers in Pharmacology, 2018

30057548 (PubMed )
Supplement: Data_Sheet_1.xls › Supplementary_Table_S5

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

27245685 (PubMed )
Supplement: 13073_2016_313_MOESM1_ESM.xlsx › S5
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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."