Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S367delFs
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ATM

NM_000051.4:p.S367delFs

Associated Papers

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

What About the Others? Clinical Management of Gynecologic Cancer Risk in Patients With Moderate-Risk Hereditary Cancer Genes ( ATM , BRIP1 , RAD51C , RAD51D , and PALB2 ).

Goldfeld EI et al.

Clinical Obstetrics and Gynecology, 2024

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline Clinical Insights.

Ricker C et al.

Jco Oncology Practice, 2024

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

38898688 (PubMed )
Supplement: CAM4-13-e7340-s001.docx

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

McDevitt T et al.

European Journal of Human Genetics : Ejhg, 2024

38443545 (PubMed )
Supplement: 41431_2023_1507_MOESM1_ESM.docx

Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.

Schwartz CJ et al.

Breast Cancer Research and Treatment, 2024

38091153 (PubMed )
Supplement: 10549_2023_7176_MOESM1_ESM.xlsx › Table_S1

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.

Kotnik U et al.

Scientific Reports, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11A

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

Mavaddat N et al.

Jama Oncology, 2022

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

Fonfria M et al.

Journal of Personalized Medicine, 2021

Breast Cancer-Related Low Penetrance Genes.

Kang D et al.

Advances in Experimental Medicine and Biology, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.

Heald B et al.

Familial Cancer, 2020

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM7_ESM.xlsx › Tabelle1

Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.

Yin J et al.

Frontiers in Genetics, 2019

Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.

Powers B et al.

Surgical Oncology Clinics of North America, 2018

Current perspectives on CHEK2 mutations in breast cancer.

Apostolou P et al.

Breast Cancer (dove Medical Press), 2017

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Liu J et al.

Scientific Reports, 2016

27845421 (PubMed )
Supplement: srep36874-s1.pdf

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.

Muranen TA et al.

Breast Cancer Research : Bcr, 2016

27716369 (PubMed )
Supplement: 13058_2016_758_MOESM1_ESM.docx

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

DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

de Miranda NF et al.

The Journal of Experimental Medicine, 2013

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

Cybulski C et al.

British Journal of Cancer, 2013

Map making in the 21st century: charting breast cancer susceptibility pathways in rodent models.

Blackburn AC et al.

Journal of Mammary Gland Biology and Neoplasia, 2011

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Le Calvez-Kelm F et al.

Breast Cancer Research : Bcr, 2011

Evaluating cancer epidemiologic risk factors using multiple primary malignancies.

Kuligina E et al.

Epidemiology (cambridge, Mass.), 2010

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Campeau PM et al.

Human Genetics, 2008

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW et al.

International Journal of Cancer, 2007

Radiation clastogenesis and cell cycle checkpoint function as functional markers of breast cancer risk.

Kaufmann WK et al.

Carcinogenesis, 2006

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.

Webb EL et al.

Human Molecular Genetics, 2006

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.

Cybulski C et al.

Journal of Medical Genetics, 2006

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

[Research on breast cancer susceptibility genes].

Ye J et al.

Ai Zheng = Aizheng = Chinese Journal of Cancer, 2002

Inherited mutations in DNA repair genes and cancer risk.

Romero-Laorden N et al.

Current Problems in Cancer, 0

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