Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome

Isr Med Assoc J. 2007 Dec;9(12):847-50.


Background: Fanconi anemia complementation group C and Bloom syndrome, rare autosomal recessive disorders marked by chromosome instability, are especially prevalent in the Ashkenazi* Jewish community. A single predominant mutation for each has been reported in Ahshkenazi Jews: c.711+4A-->T (IVS4 +4 A-->T) in FACC and BLM(Ash) in Bloom syndrome. Individuals affected by either of these syndromes are characterized by susceptibility for developing malignancies, and we questioned whether heterozygote carriers have a similarly increased risk.

Objectives: To estimate the cancer rate among FACC and BLM(Ash) carriers and their families over three previous generations in unselected Ashkenazi Jewish individuals.

Methods: We studied 42 FACC carriers, 28 BLM(Ash) carriers and 43 controls. The control subjects were Ashkenazi Jews participating in our prenatal genetic screening program who tested negative for FACC and BLM(Ash). All subjects filled out a questionnaire regarding their own and a three-generation family history of cancer. The prevalence rates of cancer among relatives of FACC, BLM(Ash) and controls were computed and compared using the chi-square test.

Results: In 463 relatives of FACC carriers, 45 malignancies were reported (9.7%) including 10 breast (2.2%) and 13 colon cancers (2.8%). Among 326 relatives of BLM(Ash) carriers there were 30 malignancies (9.2%) including 7 breast (2.1%) and 4 colon cancers (1.2%). Controls consisted of 503 family members with 63 reported malignancies (12.5%) including 11 breast (2.2%) and 11 colon cancers (2.2%).

Conclusions: We found no significantly increased prevalence of malignancies among carriers in at least three generations compared to the controls.

MeSH terms

  • Adult
  • Bloom Syndrome / epidemiology*
  • Bloom Syndrome / ethnology*
  • Bloom Syndrome / genetics
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / ethnology*
  • Breast Neoplasms / genetics
  • Case-Control Studies
  • Colorectal Neoplasms / epidemiology*
  • Colorectal Neoplasms / ethnology*
  • Colorectal Neoplasms / genetics
  • Fanconi Anemia / epidemiology*
  • Fanconi Anemia / ethnology*
  • Fanconi Anemia / genetics
  • Female
  • Heterozygote*
  • Humans
  • Israel / epidemiology
  • Jews / genetics*
  • Male
  • Mutation / genetics*
  • Prevalence
  • Risk Assessment