Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L253fs
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PALB2

NM_024675.4:p.L253fs

Associated Papers

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Dong L et al.

Cancer Biology & Medicine, 2021

34570441 (PubMed )
Supplement: cbm-19-850-s001.pdf

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.

Dong L et al.

Human Mutation, 2018

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

Fewings E et al.

The Lancet. Gastroenterology & Hepatology, 2018

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

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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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."