[HTML][HTML] ATM in breast and brain tumors: a comprehensive review

MA Estiar, P Mehdipour - Cancer biology & medicine, 2018 - ncbi.nlm.nih.gov
The ATM gene is mutated in the syndrome, ataxia-telangiectasia (AT), which is
characterized by predisposition to cancer. Patients with AT have an elevated risk of breast …

Contribution of mutations in ATM to breast cancer development in the Czech population

J Soukupova, P Dundr, Z Kleibl… - Oncology …, 2008 - spandidos-publications.com
Mutations in the ATM gene are the cause of a rare autosomal recessive syndrome, ataxia-
telangiectasia (AT). Of the general population,≈ 0.35-1% has been estimated to be …

Association of common ATM polymorphism with bilateral breast cancer

K Heikkinen, K Rapakko, SM Karppinen… - … journal of cancer, 2005 - Wiley Online Library
The ATM kinase has an essential role in maintaining genomic integrity. Loss of both ATM
alleles results in ataxia‐telangiectasia (A‐T), a rare autosomal recessive neuroimmunologic …

Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

N Waddell, J Jonnalagadda, A Marsh… - Genes …, 2006 - Wiley Online Library
Mutations in ATM are responsible for the autosomal recessive disorder ataxia telangiectasia.
Heterozygous mutations in ATM have been associated with an elevated risk of breast …

[HTML][HTML] ATM gene mutations in sporadic breast cancer patients from Brazil

FR Mangone, EC Miracca, HE Feilotter, LM Mulligan… - Springerplus, 2015 - Springer
Abstract Purpose The Ataxia-telangiectasia mutated (ATM) gene encodes a multifunctional
kinase, which is linked to important cellular functions. Women heterozygous for ATM …

The ATM Gene and Susceptibility to Breast Cancer: Analysis of 38 Breast Tumors Reveals No Evidence for Mutation

I Vořechovský, D Rasio, L Luo, C Monaco… - Cancer Research, 1996 - AACR
Heterozygosity for ataxia-telangiectasia (AT), a cancer-prone recessive syndrome, has been
associated with an increased risk of breast cancer. The gene for AT (ATM) is located at …

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

RA Gatti, A Tward, P Concannon - Molecular genetics and metabolism, 1999 - Elsevier
The failure to find an increased frequency of ATM mutations in large cancer cohorts,
especially breast cancer, is contrary to what was anticipated based on the increased cancer …

ATM Mutations in Cancer Families

I Vořechovský, L Luo, A Lindblom, M Negrini… - Cancer research, 1996 - AACR
Ataxia-telangiectasia (AT) is a multisystem recessive disease characterized clinically by
cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, sensitivity to …

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

SP Scott, R Bendix, P Chen, R Clark… - Proceedings of the …, 2002 - National Acad Sciences
The human genetic disorder ataxia-telangiectasia (AT) is characterized by hypersensitivity to
ionizing radiation and an elevated risk of malignancy. Epidemiological data support an …

The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer

DL Stredrick, M Garcia‐Closas, MA Pineda… - Human …, 2006 - Wiley Online Library
Homozygous mutation in the ATM gene causes ataxia telangiectasia and heterozygous
mutation carriers may be at increased risk of breast cancer. We studied a total of 22 ATM …