Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers

Br J Cancer. 2000 Jul;83(2):153-5. doi: 10.1054/bjoc.2000.1248.


The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n= 53) and healthy controls (n= 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli Protein
  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics
  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Cytoskeletal Proteins / genetics*
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins / genetics
  • Ovarian Neoplasms / genetics*
  • Transcription Factors / genetics


  • Adenomatous Polyposis Coli Protein
  • BRCA1 Protein
  • BRCA2 Protein
  • Cytoskeletal Proteins
  • Genetic Markers
  • Neoplasm Proteins
  • Transcription Factors