Undiagnosed neurocutaneous disorders
Gene: FANCMPublication PMID: 28837162 entitled: “Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.” In this study breast cancer probands were investigated for DNA damage response genes, and 5 cases had FANCM loss-of-function variants. They showed a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. The phenotype severity might correlate with mutation position in the gene. They authors conclude: “Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. Moreover, our observations support previous findings suggesting that FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features.”Created: 2 Nov 2017, 2:31 p.m.
Publications
Comment on list classification: Changed rating from Green to Red based on more recent evidence which disputes that FANCM is a Fanconi anemia gene (Singh et al., 2009 (PMID:19423727) and Lim et al., 2014 (PMID:25078778).Created: 9 Feb 2017, 11:45 a.m.
Comment on phenotypes: Removed 'Fanconi anemia, complementation group M, 614087' phenotype since MIM:614087 is no longer valid.Created: 9 Feb 2017, 11:44 a.m.
Publications for FANCM were set to 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene; 19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA; 25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia.
This gene has been classified as Red List (Low Evidence).
Phenotypes for FANCM were set to Fanconi Anemia; Fanconi Anaemia
FANCM was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
FANCM was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCM was set to BIALLELIC, autosomal or pseudoautosomal
FANCM was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
FANCM was created by ellenmcdonagh