Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.E916_V917Splc
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PALB2

NM_024675.4:p.E916_V917Splc

Associated Papers

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

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

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

Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers.

Lim WC et al.

Frontiers in Immunology, 2023

38318504 (PubMed )
Supplement: Table_1.xlsx › Table_S11B

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park JS et al.

Cancer Research and Treatment, 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

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.

Woodward ER et al.

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

Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.

Zhang K et al.

Breast Cancer Research and Treatment, 2017

Inborn errors of immunity and its clinical significance in children with lymphoma in China: a single-center study.

Yang C et al.

Jornal De Pediatria, 0

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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."