Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K24_K25Splc
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ATM

NM_000051.4:p.K24_K25Splc

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Magnarelli A et al.

The Journal of Allergy and Clinical Immunology, 2025

An appraisal of genetic testing for prostate cancer susceptibility.

Finch A et al.

Npj Precision Oncology, 2022

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

Breast Cancer-Related Low Penetrance Genes.

Kang D et al.

Advances in Experimental Medicine and Biology, 2021

Feasibility of genetic testing for cancer risk assessment programme in Nigeria.

Adejumo PO et al.

Ecancermedicalscience, 2021

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM1_ESM.pdf

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.

Lener MR et al.

Cancer Research and Treatment, 2017

Rapid Detection Method for the Four Most Common CHEK2 Mutations Based on Melting Profile Analysis.

Borun P et al.

Molecular Diagnosis & Therapy, 2015

A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2014

An inherited NBN mutation is associated with poor prognosis prostate cancer.

Cybulski C et al.

British Journal of Cancer, 2013

Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.

Haytural H et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Hereditary genes and SNPs associated with breast cancer.

Mahdi KM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Myszka A et al.

Journal of Applied Genetics, 2011

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.

Kleibl Z et al.

European Journal of Cancer (oxford, England : 1990), 2009

Inherited susceptibility to common cancers.

Foulkes WD

The New England Journal of Medicine, 2008

CHEK2-positive breast cancers in young Polish women.

Cybulski C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

A novel founder CHEK2 mutation is associated with increased prostate cancer risk.

Cybulski C et al.

Cancer Research, 2004

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

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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."