Quick glance at Fanconi anemia and BRCA2/FANCD1

Abstract

Fanconi anemia (FA) is a rare genetic disorder characterized by multiple congenital malformations, progressive bone marrow failure, and susceptibility to cancer. The FA-D1 subtype is associated with biallelic mutations in the breast cancer 2 genes also known as FANCD1. Patients with this mutation display severe disease phenotype. In addition, different types of cancer other than breast cancer are associated with this mutation, such as leukemia, solid tumors of the central nervous system, etc. In this review, we have surveyed the literature on FA, FA genes, their biological roles, and specifically discussed the current information available on the FA-D1 disease subtype. The observations show that the timing of biallelic loss of BRCA2 can establish the specific cancer spectrum. The knowledge about effects of the FANCD1/BRCA2 mutation on FA and cancer pathogenesis can be used for further understanding the FA-D1 subtype of the disease.