Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P428L
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ATM

NM_000051.4:p.P428L

Associated Papers

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

Cancer, 2024

Immunohistochemical findings and clinicopathological features of breast cancers with pathogenic germline mutations in Non-BRCA genes.

Singh K et al.

Human Pathology, 2024

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

Schwartz CJ et al.

Breast Cancer Research and Treatment, 2024

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hanson H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

Bandeira G et al.

Breast Cancer (tokyo, Japan), 2021

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Hartman TR et al.

Scientific Reports, 2020

The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.

Mandelker D et al.

Jnci Cancer Spectrum, 2019

31360903 (PubMed )
Supplement: supplementary_data_pkz027.pdf

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.

Nielsen SM et al.

Journal of Genetic Counseling, 2018

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Balmaña J et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

The influence of reproductive factors on breast cancer risk in women with pathogenic mutations.

Gabriel Goidescu I et al.

Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 0

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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."