Haematological malignancies cancer susceptibility

Gene: FANCM

Amber List (moderate evidence)

FANCM (Fanconi anemia complementation group M)
EnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Currently lack of evidence for fanconi anaemia.
Created: 26 Jul 2018, 8:11 a.m.
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, 2:23 p.m.

Publications

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Bone marrow failure
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
Tags
drug-toxicity
OMIM
609644
Clinvar variants
Variants in FANCM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Publication PMID: 28837162 ent

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: fancm has been classified as Amber List (Moderate Evidence).

26 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: fancm has been classified as Red List (Low Evidence).

30 Jan 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to FANCM. Panel: Haematological malignancies pertinent cancer susceptibility

21 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FANCM was created by ellenmcdonagh

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCM was added to Haematological malignanciespanel. Sources: Curated sources