Genes associated with Fanconi anemia
| Gene . | % of FA cases . | Inheritance . | Population distribution and unique phenotypes . |
|---|---|---|---|
| FANCA | 45-60 | AR | Founder mutations: Middle Eastern, North African, Spanish Romani, Afrikaner, Sicilian Mutation-specific disease severity |
| FANCC | 10-15 | AR | Founder mutations: Ashkenazi, Saudi, northern Europe Exon 15 mutations: more severe phenotype c.67delG: milder phenotype |
| FANCG | 5-10 | AR | Founder mutations: Sub-Saharan Africa, Japan, Korea Severe hematologic disease |
| FANCB | 1-2 | XL | VACTERL-H common |
| FANCD1/BRCA2 | 1-4 | AR | High leukemia risk: myeloid and lymphoid Early childhood solid tumors: brain, Wilms, neuroblastoma Aplastic BMF uncommon Carriers: risk of breast, ovarian, prostate, pancreatic cancer |
| FANCD2 | 3-5 | AR | Sequencing challenging due to pseudogenes |
| FANCI | 1-4 | AR | VACTERL-H common |
| FANCJ/BRIP1 | 1-4 | AR | Carriers: increased breast/ovarian cancer risk |
| FANCL | 1-2 | AR | Founder mutations: India, Pakistan VACTERL-H common |
| FANCM | <2 | AR | Lower risk of congenital anomalies and BMF Early-onset cancer risk |
| FANCN/PALB2 | <2 | AR | Severe clinical presentation High leukemia risk Early childhood solid tumors: brain, Wilms, neuroblastoma Carriers: breast and pancreatic cancer risk |
| FANCQ/ERCC4 | <2 | AR | Overlap with xeroderma pigmentosum |
| FANCR/RAD51 | <2 | AD | Congenital anomalies common BMF and cancer not yet reported |
| FANCS/BRCA1 | <2 | AR | Severe solid tumor and leukemia risk Congenital anomalies BMF not yet reported Carriers: risk of breast, ovarian, prostate, pancreatic cancer |
| FANCE, FANCF, FANCO, FANCP, FANCT, FANCU, FANCV, FANCW, FANCY | <2 | AR | Rare cases only |
| Gene . | % of FA cases . | Inheritance . | Population distribution and unique phenotypes . |
|---|---|---|---|
| FANCA | 45-60 | AR | Founder mutations: Middle Eastern, North African, Spanish Romani, Afrikaner, Sicilian Mutation-specific disease severity |
| FANCC | 10-15 | AR | Founder mutations: Ashkenazi, Saudi, northern Europe Exon 15 mutations: more severe phenotype c.67delG: milder phenotype |
| FANCG | 5-10 | AR | Founder mutations: Sub-Saharan Africa, Japan, Korea Severe hematologic disease |
| FANCB | 1-2 | XL | VACTERL-H common |
| FANCD1/BRCA2 | 1-4 | AR | High leukemia risk: myeloid and lymphoid Early childhood solid tumors: brain, Wilms, neuroblastoma Aplastic BMF uncommon Carriers: risk of breast, ovarian, prostate, pancreatic cancer |
| FANCD2 | 3-5 | AR | Sequencing challenging due to pseudogenes |
| FANCI | 1-4 | AR | VACTERL-H common |
| FANCJ/BRIP1 | 1-4 | AR | Carriers: increased breast/ovarian cancer risk |
| FANCL | 1-2 | AR | Founder mutations: India, Pakistan VACTERL-H common |
| FANCM | <2 | AR | Lower risk of congenital anomalies and BMF Early-onset cancer risk |
| FANCN/PALB2 | <2 | AR | Severe clinical presentation High leukemia risk Early childhood solid tumors: brain, Wilms, neuroblastoma Carriers: breast and pancreatic cancer risk |
| FANCQ/ERCC4 | <2 | AR | Overlap with xeroderma pigmentosum |
| FANCR/RAD51 | <2 | AD | Congenital anomalies common BMF and cancer not yet reported |
| FANCS/BRCA1 | <2 | AR | Severe solid tumor and leukemia risk Congenital anomalies BMF not yet reported Carriers: risk of breast, ovarian, prostate, pancreatic cancer |
| FANCE, FANCF, FANCO, FANCP, FANCT, FANCU, FANCV, FANCW, FANCY | <2 | AR | Rare cases only |
Data derived from Fanconi Anemia Clinical Care Guidelines.2
AD, autosomal dominant; AR, autosomal recessive; VACTERL-H, vertebral, anal, cardiac, tracheoesophageal fistula, esophageal atresia, renal, limb, hydrocephalus; XL, X-linked.