DNA Repair Genes pertinent cancer susceptibility


Red List (low evidence)

FANCM (Fanconi anemia complementation group M)
EnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 20 panels

1 review

Ellen McDonagh (Genomics England Curator)

Publication 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, 2:21 p.m.


History Filter Activity

7 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Publication PMID: 28837162 ent

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCM was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database

21 Jun 2017, Gel status: 0


Ellen McDonagh (Genomics England Curator)

FANCM was created by ellenmcdonagh