Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.R1030*
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FANCM

NM_020937.4:p.R1030*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.

Figlioli G 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_S5-final_16052022.xlsx › Table_S5A

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

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.

Figlioli G et al.

Cancers, 2020

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.

Neidhardt G et al.

Jama Oncology, 2017

Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.

Figlioli G et al.

Mutation Research. Reviews in Mutation Research, 0

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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."