Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.F440fs
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PALB2

NM_024675.4:p.F440fs

Associated Papers

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.

Bonamici L et al.

Human Mutation, 2026

41488399 (PubMed )
Supplement: HUMU-2026-6601291-s002.xlsx › PALB2_Variants

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

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

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

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

Mesarič VA et al.

Human Genomics, 2024

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.

Tibiletti MG et al.

Tumori, 2024

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

F-box DNA Helicase 1 (FBH1) Contributes to the Destabilization of DNA Damage Repair Machinery in Human Cancers.

Watson AJ et al.

Cancers, 2023

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

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

Shui L et al.

Journal of Translational Medicine, 2021

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

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

Pauty J et al.

The Biochemical Journal, 2014

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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."