Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Y551*
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PALB2

NM_024675.4:p.Y551*

Associated Papers

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.

Gomes TT et al.

The Journal of Biological Chemistry, 2025

Prevalence and characteristics of lung cancer in families harboring Pathogenic Germline Variants in cancer predisposing genes: A 20-year retrospective analysis.

Laguna JC et al.

European Journal of Cancer (oxford, England : 1990), 2025

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Analytical validation of a homologous recombination deficiency signature (HRDsig) in pan-tumor tissue samples.

Li W et al.

Plos One, 2025

41248118 (PubMed )
Supplement: pone.0336940.s006.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.

Wu S et al.

Npj Breast Cancer, 2022

PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.

Gonzalez A et al.

Breast Cancer Research and Treatment, 2022

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Liu X et al.

Npj Precision Oncology, 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

Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.

Wu Y et al.

Breast Cancer Research and Treatment, 2020

Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.

Hu ZY et al.

Frontiers in Genetics, 2020

33193564 (PubMed )
Supplement: Table_5.XLSX › clinvar

Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Boonen RACM et al.

Frontiers in Molecular Biosciences, 2020

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Boonen RACM et al.

Nature Communications, 2019

Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.

Foo TK et al.

Oncogene, 2017

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.

Catucci I et al.

Breast Cancer Research : Bcr, 2016

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

Park JY et al.

Oncogene, 2014

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses.

Park JY et al.

Biochimica Et Biophysica Acta, 2014

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

Pauty J et al.

The Biochemical Journal, 2014

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Blanco A et al.

Plos One, 2013

MDC1 and RNF8 function in a pathway that directs BRCA1-dependent localization of PALB2 required for homologous recombination.

Zhang F et al.

Journal of Cell Science, 2012

PALB2 mutations in German and Russian patients with bilateral breast cancer.

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Casadei S et al.

Cancer Research, 2011

Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination.

Buisson R et al.

Nature Structural & Molecular Biology, 2010

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

Xia B et al.

Nature Genetics, 2007

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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."