Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L484*
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PALB2

NM_024675.4:p.L484*

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia.

Mesarič VA et al.

Human Genomics, 2024

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Rocca V et al.

Current Issues in Molecular Biology, 2024

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.

Li J et al.

Journal of Cancer Research and Clinical Oncology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

Challenges in the management of operable triple-negative breast cancer in a survivor of the B-cell acute lymphoblastic leukemia: a case report.

Pavlin T et al.

Frontiers in Oncology, 2024

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Paduano F et al.

Genes, 2022

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_S4-final_16052022.xlsx › Table_4A

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.

Zhou J et al.

Cancer, 2020

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T et al.

Npj Breast Cancer, 2020

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