Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q343*
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PALB2

NM_024675.4:p.Q343*

Associated Papers

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

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

Mesarič VA et al.

Human Genomics, 2024

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

Combining rare and common genetic variants improves population risk stratification for breast cancer.

Bolze A et al.

Genetics in Medicine Open, 2024

39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2

Courant F et al.

Epigenomes, 2022

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

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

Wu S et al.

Frontiers in Oncology, 2020

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.

Vagena A et al.

Journal of Human Genetics, 2019

Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.

Guacci A et al.

Journal of Clinical Laboratory Analysis, 2018

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Caleca L et al.

Frontiers in Oncology, 2018

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

Catucci I et al.

Breast Cancer Research and Treatment, 2016

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

Catucci I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC et al.

The New England Journal of Medicine, 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

Novel germline PALB2 truncating mutations in African American breast cancer patients.

Zheng Y et al.

Cancer, 2012

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.

Peterlongo P et al.

Breast Cancer Research and Treatment, 2011

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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."