Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.V132delFs
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PALB2

NM_024675.4:p.V132delFs

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2025

Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.

Park JE et al.

Cancers, 2024

39409938 (PubMed )
Supplement: cancers-16-03318-s001.zip › cancers-3195289-supplementary.pdf

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

Butz H et al.

Cancers, 2023

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

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

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

Pauty J et al.

The Biochemical Journal, 2014

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S et al.

Nature Genetics, 2007

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