Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S1102R
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PALB2

NM_024675.4:p.S1102R

Associated Papers

Genomic characterization of patients with colorectal cancer.

Mahdouani M et al.

Hereditary Cancer in Clinical Practice, 2025

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › PALB2

Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

Llinares-Burguet I et al.

Cancers, 2024

39518003 (PubMed )
Supplement: cancers-16-03562-s001.zip › Supplementary_Material_R1.pdf

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s002.xlsx › Supp_Table_5

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3

PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer.

Butz H et al.

Cancers, 2023

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

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

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

Boonen RACM et al.

Frontiers in Molecular Biosciences, 2020

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Rodrigue A et al.

Nucleic Acids Research, 2019

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.

Cecener G et al.

Molecular Biology Reports, 2016

PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

Li YT et al.

European Journal of Medical Research, 2015

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I et al.

Familial Cancer, 2012

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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."