Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G509_A510del2
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ATM

NM_000051.4:p.G509_A510del2

Associated Papers

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › PALB2

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Goidescu IG et al.

Cancers, 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

Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population.

Złowocka-Perłowska E et al.

Hereditary Cancer in Clinical Practice, 2021

Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Wu S et al.

Frontiers in Oncology, 2020

Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population.

Hilz P et al.

Hereditary Cancer in Clinical Practice, 2019

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

Lener MR et al.

Cancer Research and Treatment, 2017

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Kluska A et al.

Bmc Medical Genomics, 2017

Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.

Pauty J et al.

The Biochemical Journal, 2014

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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