Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S1165S
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PALB2

NM_024675.4:p.S1165S

Associated Papers

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

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 › BVs

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.

Dragoš VŠ et al.

International Journal of Molecular Sciences, 2022

Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.

Gomes R et al.

Breast Cancer Research and Treatment, 2021

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.

Nguyen-Dumont T et al.

Analytical Biochemistry, 2015

Assessment of PALB2 as a candidate melanoma susceptibility gene.

Aoude LG et al.

Plos One, 2014

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Nguyen-Dumont T et al.

Bmc Medical Genomics, 2013

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H et al.

Human Mutation, 2011

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

A PALB2 germline mutation associated with hereditary breast cancer in Italy.

Papi L et al.

Familial Cancer, 2010

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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."