IBMDx study

Gene: FANCM

I don't know

Various studies [PMID: 28837162, 28837157, 34793962, 31942822] have demonstrated that biallelic FANCM mutations should be considered within the spectrum of FA-like syndromes, mainly characterized by increased risk for breast and other types of cancer, and chemotherapy toxicity without preceding overt marrow failure or congenital abnormalities. In vitro cellular studies and FANCM deficient mice models [PMID: 19423727, 19561169, 25010009] support the hypersensitivity to chemotherapy agents and cancer predisposition being associated with FANCM mutations.

Created: 9 Feb 2022, 11:43 p.m. | Last Modified: 9 Feb 2022, 11:43 p.m.

Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FA-like syndromes, mainly characterized by increased risk for breast and other types of cancer, and chemotherapy toxicity

Publications

• Publications (PMID: 28837162
• 28837157
• 34793962
• 31942822
• 19423727
• 19561169
• 25010009)

Red List (low evidence)

The association between FANCM and FA is considered REFUTED.

Created: 23 Jul 2020, 11:45 p.m. | Last Modified: 23 Jul 2020, 11:45 p.m.

Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia

Publications

• 28837162