Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.G1906fs
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FANCM

NM_020937.4:p.G1906fs

Associated Papers

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.

Billaud A et al.

Breast (edinburgh, Scotland), 2025

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

Figlioli G et al.

Cancers, 2023

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Figlioli G et al.

European Journal of Human Genetics : Ejhg, 2023

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.

Peterlongo P et al.

Npj Breast Cancer, 2021

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

Figlioli G et al.

Cancers, 2020

The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.

Schubert S et al.

International Journal of Cancer, 2019

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Figlioli G et al.

Npj Breast Cancer, 2019

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.

Bogliolo M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Catucci I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.

Silvestri V et al.

Breast (edinburgh, Scotland), 2018

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Peterlongo P et al.

Human Molecular Genetics, 2015

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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