Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.T300I
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PALB2

NM_024675.4:p.T300I

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_MOESM7_ESM.xlsx › Suppl._Table_5

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

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

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.

Rashid MU et al.

Cancer Research and Treatment, 2019

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

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

Phuah SY et al.

Plos One, 2013

Germline mutations in PALB2 in African-American breast cancer cases.

Ding YC et al.

Breast Cancer Research and Treatment, 2011

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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."