Adenomatous polyposis coli I1307K mutation in Jewish patients with different ethnicity: Prevalence and phenotype

Liat Drucker, Ofer Shpilberg, Avivit Neumann, Jermey Shapira, Rodica Stackievicz, Yoram Beyth, Shai Yarkoni

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


BACKGROUND. A new mutation, I1307K, recently was reported in the adenomatous polyposis coli (APC) gene. This mutation was found to be predominant in Ashkenazi Jews, creating a hypermutable area and predisposing the development of carcinoma. The objective of the current study was to estimate the prevalence of this mutation in several of the ethnic groups that comprise the Israeli population and to elucidate the clinical features of the mutation carriers with colorectal carcinoma (CRC). METHODS. A total of 111 consecutive CRC patients were evaluated and their medical history and clinical data recorded. The general population (298 Ashkenazim and 189 Yemenites) also was tested for the presence of this mutation. Mutation screening was performed using both the polymerase chain reaction-based amplification refractory mutation system and a commercial APC kit. RESULTS. Of the total of 111 CRC patients, 15 (13.5%) carried the I1307K mutation and 26 of 487 subjects from the general population (5.3%) carried the I1307K mutation (P = 0.004). Among the 71 Ashkenazi CRC patients there were 12 carriers (16.9%) whereas 17 of the 298 Ashkenazi Jewish general population (5.7%) carried the mutation (P = 0.004). Of the 4 CRC patients of Yemenite origin, 3 carried the mutation and 9 carriers were found among 189 subjects in the general Yemenite population (4.7%) (P = 0.0007). None of the 34 Sepharadic or 2 Arab CRC patients carried the APC I1307K allele. Late age at diagnosis (64.6 years ± 10.0, which is similar to that of the noncarriers), mostly right-sided tumors, and moderate to good differentiation constituted the phenotype of the mutation carriers. CONCLUSIONS. The authors believe the findings of the current study broaden the known spectrum of ethnic groups in which the APC I1307K mutation is prevalent. The phenotype of the mutation carrier CRC patients does not conform to the expected familial pattern of germline mutations. The phenotype and the differential incidence rate of CRC among APC I1307K carriers of various ethnic groups suggest low penetrance. (C) 2000 American Cancer Society.

Original languageEnglish
Pages (from-to)755-760
Number of pages6
Issue number4
StatePublished - 15 Feb 2000
Externally publishedYes


  • Adenomatous polyposis coli (APC)
  • Ashkenazi Jews
  • Colorectal carcinoma
  • I1307K
  • Low penetrance
  • Tumor suppresser gene
  • Yemenite Jews


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