Associated Papers
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
Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression.
Lorite NP et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.
Ng JY et al.
British Journal of Haematology, 2023
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Yoshida R et al.
Cancer Science, 2021
33421217 (PubMed )
Supplement: CAS-112-1310-s002.xlsx › Table_S1B
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
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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