Table 3.

Abnormalities of FA genes in human cancer in the general population


Gene, type of abnormality, tissue

Frequency in clinical samples (%)

Cell lines with FA abnormalities

Reference
FANCF    
    Methylation     
        Ovarian cancer   4/19 (21)   TOV-21G, 2008, C13*, OAW42   Taniguchi et al30  
        Stage III/IV epithelial ovarian tumors   0/? (0)   NA   Teodoridis et al140  
        Granulosa cell tumors of the ovary   6/25 (24)   NA   Dhillon et al35  
        Breast cancer   13/75 (17)   NA   Olopade and Wei32  
        Non-small cell lung cancer   22/158 (14)   NA   Marsit et al33  
        Head and neck squamous cell carcinoma   13/89 (15)   NA   Marsit et al33  
        Cervical cancer   27/91 (30)   SiHa, ME-180, SW756   Narayan et al34  
        Testicular germ cell tumor (nonseminoma)   4/60 (6.7)   NA   Koul et al36  
        Acute myeloid leukemia   0/36 (0)   CHRF-288   Tischkowitz et al31  
    Decreased expression (unknown mechanism)     
        Breast cancer   NA   UACC812   van der Heijden et al141  
FANCA    
    Reduced expression (heterozygous deletion)     
        Acute myeloid leukemia (adult)   4/101 (4.0)   NA   Tischkowitz et al143  
    Point mutation     
        Acute myeloid leukemia (adult)   6/79 (7.6)   NA   Condie et al142  
    Functional abnormality (unknown mechanism)     
        Acute myeloid leukemia (adult)   NA   UoC-M1   Lensch et al144  
FANCC    
    Point mutation/frameshift + LOH     
        Pancreatic cancer   2/22 (9)*  NA   van der Heijden et al37  
    Large homozygous deletion     
        Pancreatic cancer   NA   PL11   van der Heijden et al38  
FANCG    
    Point mutation (nonsense) + LOH     
        Pancreatic cancer   0/22 (0)  Hs766T   van der Heijden et al37  
Unknown    
    Lack of monoubiquitination of FANCD2     
        Head and neck squamous cell carcinoma
 
NA
 
FaDu
 
van der Heijden et al141 
 

Gene, type of abnormality, tissue

Frequency in clinical samples (%)

Cell lines with FA abnormalities

Reference
FANCF    
    Methylation     
        Ovarian cancer   4/19 (21)   TOV-21G, 2008, C13*, OAW42   Taniguchi et al30  
        Stage III/IV epithelial ovarian tumors   0/? (0)   NA   Teodoridis et al140  
        Granulosa cell tumors of the ovary   6/25 (24)   NA   Dhillon et al35  
        Breast cancer   13/75 (17)   NA   Olopade and Wei32  
        Non-small cell lung cancer   22/158 (14)   NA   Marsit et al33  
        Head and neck squamous cell carcinoma   13/89 (15)   NA   Marsit et al33  
        Cervical cancer   27/91 (30)   SiHa, ME-180, SW756   Narayan et al34  
        Testicular germ cell tumor (nonseminoma)   4/60 (6.7)   NA   Koul et al36  
        Acute myeloid leukemia   0/36 (0)   CHRF-288   Tischkowitz et al31  
    Decreased expression (unknown mechanism)     
        Breast cancer   NA   UACC812   van der Heijden et al141  
FANCA    
    Reduced expression (heterozygous deletion)     
        Acute myeloid leukemia (adult)   4/101 (4.0)   NA   Tischkowitz et al143  
    Point mutation     
        Acute myeloid leukemia (adult)   6/79 (7.6)   NA   Condie et al142  
    Functional abnormality (unknown mechanism)     
        Acute myeloid leukemia (adult)   NA   UoC-M1   Lensch et al144  
FANCC    
    Point mutation/frameshift + LOH     
        Pancreatic cancer   2/22 (9)*  NA   van der Heijden et al37  
    Large homozygous deletion     
        Pancreatic cancer   NA   PL11   van der Heijden et al38  
FANCG    
    Point mutation (nonsense) + LOH     
        Pancreatic cancer   0/22 (0)  Hs766T   van der Heijden et al37  
Unknown    
    Lack of monoubiquitination of FANCD2     
        Head and neck squamous cell carcinoma
 
NA
 
FaDu
 
van der Heijden et al141 
 

Values in column labeled “Frequency in clinical samples” indicates number of cases with the identified abnormality out of total number of cases.

? indicates number unknown; NA, not available.

*

LOH at 9q22.3.

LOH at 9p13.

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