Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q179R
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PALB2

NM_024675.4:p.Q179R

Associated Papers

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Boonen RACM et al.

Nature Communications, 2026

41554690 (PubMed )
Supplement: 41467_2025_67252_MOESM6_ESM.xlsx › SpliceAI_middle_region

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2022

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.

Kwong A et al.

Bmc Cancer, 2020

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals.

Fabišíková K et al.

Frontiers in Genetics, 2020

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Rizzolo P et al.

Frontiers in Oncology, 2018

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

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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."