Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.K974delFs
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PALB2

NM_024675.4:p.K974delFs

Associated Papers

PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients.

Kang MC et al.

Esmo Open, 2025

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Espinel W et al.

Cancers, 2022

35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf

A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.

Janssen B et al.

Journal of Human Genetics, 2020

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

Lu HM et al.

Jama Oncology, 2019

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG et al.

Human Mutation, 2016

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

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

Zheng Y et al.

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."