Table 3.
Gene(s) | Heterozygous | Homozygous or Compound Heterozygous |
---|---|---|
ATM | ATM-associated hereditary cancer | Ataxia telangiectasia |
BRCA2 | Hereditary breast and ovarian cancer syndrome | Fanconi anemia (complementation group D1—FANCd1) |
BRIP1 | BRIP1-associated hereditary cancer | Fanconi anemia (complementation group J—FANCJ) |
MMR genes | Lynch syndrome | Constitutional mismatch repair deficiency |
NBN | NBN-associated hereditary breast cancer | Nijmegen breakage syndrome |
PALB2 | PALB2-associated hereditary cancer | Fanconi anemia (complementation group N—FANCN) |
RAD51C | RAD51C-associated hereditary cancer | Fanconi anemia (complementation group O—FANCO) |
RAD51D | RAD51D-associated hereditary cancer | Fanconi anemiaa |
Note. Counseling for these syndromes should include discussion about reproductive risks. MMR = mismatch repair.
a RAD51D is involved in the Fanconi anemia pathway, but there are no reported cases of Fanconi anemia with mutations in RAD51D.