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. 2018 Jan 11;20(2):192–204. doi: 10.1177/1099800417750746

Table 3.

Genes Commonly Found on Multigene Cancer Panels That Are Also Associated With Other Phenotypes in Individuals With Two Mutations.

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.