Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C12_R13insFs
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ATM

NM_000051.4:p.C12_R13insFs

Associated Papers

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Jeddane L et al.

Neuromolecular Medicine, 2013

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

Brunet J et al.

Clinical Genetics, 2008

Association of common ATM variants with familial breast cancer in a South American population.

González-Hormazábal P et al.

Bmc Cancer, 2008

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

Tapia T et al.

Breast Cancer Research and Treatment, 2008

ATM alterations in childhood non-Hodgkin lymphoma.

Gumy-Pause F et al.

Cancer Genetics and Cytogenetics, 2006

Two ATM variants and breast cancer risk.

Thompson D et al.

Human Mutation, 2005

IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer.

Broeks A et al.

Human Mutation, 2003

ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.

Grønbaek K et al.

Blood, 2002

Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography.

Atencio DP et al.

Environmental and Molecular Mutagenesis, 2001

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

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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."