Table 1

Fanconi gene mutations in pancreatic cancera

Gene and settingMutationsLOHbOriginAge (yrs)
BRCA2 (familial) (reference population)17%Inherited66.0
BRCA2 (sporadic) (reference population)7–10%LOHUsually inherited71.5
FANCC (sporadic)
 PX19 tumorD195V (GAT to GTT)LOHInherited44
 PX102 tumorFrameshift (CCTTAAA to CA)LOHSomatic47
 CAPAN2 cell lineE521K (GAG to AAG)cNo LOHUnknown56
FANCG (sporadic)
 Hs766T cell lineE105ter (GAG to TAG)LOHProbably inherited46
  • a BRCA2 data are from Refs. 4 5 6 . Average ages for BRCA2 mutations include only inherited mutations. PX19 and PX102 had no family history of cancer by chart review. Variants present in the constitutional DNA were considered inherited.

  • b LOH in tumors resulting in homozygosity for the mutation.

  • c Functional significance unknown. −, not studied.