Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R37S
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PALB2

NM_024675.4:p.R37S

Associated Papers

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Boonen RACM et al.

Nature Communications, 2026

41554690 (PubMed )
Supplement: 41467_2025_67252_MOESM3_ESM.xlsx › Suppl._Data_1

Mutational landscape of triple-negative breast cancer in African American women.

Yao S et al.

Nature Genetics, 2025

40858906 (PubMed )
Supplement: 41588_2025_2322_MOESM4_ESM.xlsx › Suppl.Table7

Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.

Park JE et al.

Cancers, 2024

39409938 (PubMed )
Supplement: cancers-16-03318-s001.zip › cancers-3195289-supplementary.pdf

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.

Valenzuela-Palomo A et al.

Cancers, 2022

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Valenzuela-Palomo A et al.

The Journal of Pathology, 2022

34846068 (PubMed )
Supplement: PATH-256-321-s001.zip › path5839-sup-TablesS1-S11.docx

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.

Nawar N et al.

Bioinformation, 2021

Functional characterization of 84 PALB2 variants of uncertain significance.

Wiltshire T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

A high frequency of PALB2 mutations in Jamaican patients with breast cancer.

Lerner-Ellis J et al.

Breast Cancer Research and Treatment, 2017

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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."