Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
40037090 (PubMed )
Supplement: mmc2.pdf
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
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Figlioli G et al.
Cancers, 2023
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
Cavaillé M et al.
Genes, Chromosomes & Cancer, 2021
Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic FANCM variants.
Ryland GL et al.
Leukemia & Lymphoma, 2020
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S2.xlsx › Supplementary_Table_2
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G et al.
Cancers, 2020
A homozygous FANCM frameshift pathogenic variant causes male infertility.
Yin H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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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