‘Pure Sephardim’ liable to carry mutation for cancer

‘Founder gene’ for breast or ovarian cancer goes back over 500 years.

February 23, 2011 03:31
2 minute read.
Genetics is “central in designing the brain."

DNA_311. (photo credit: (www.genome.gov))


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Until about a decade ago, it was thought that Ashkenazi women were at higher risk of contracting breast and ovarian cancer (and a small number of Ashkenazi men got breast and prostate cancer) due to a BRCA gene mutation.

Then mutations for Jews originating from Iraq, Yemen, Iran and Afghanistan were discovered as well, proving that Sephardim can be at risk as well.

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Now Hadassah genetic researchers have discovered two “founder” gene mutations that can cause breast and ovarian cancer in Jewish women whose families were expelled from Spain in 1492 and Portugal in 1497, wandered into Italy, Bulgaria, Turkey and Yugoslavia, and today live in Israel and abroad.

Dr. Michal Sagi of the genetics and metabolic diseases department of Hadassah University Medical Center in Jerusalem’s Ein Kerem and colleagues have published their findings in a recent issue of the journal Familiar Cancer.

Sagi told The Jerusalem Post on Tuesday that the mutation was found in six families (about 3 per cent).  When only the very high risk families were examined, the mutations are found in 26% to 31% of them.

The families that were tested are descendants of Jews who lived in the Iberian Peninsula before the end of the 15th century. Such usually Ladino-speaking people are often called “Samech-Tet” for Sephardim Tehorim, or “pure Sephardim,” who originated in Spain more than half a millennium ago.

Because of a widely held assumption that Ashkenazi women are those with the genetic tendency for BRCA1 and BRCA2 genetic mutations, many doctors used to assume that patients of Sephardic background are not at risk. Then the Sephardi mutations from Iraq, Yemen, Iran and Afghanistan were revealed. The newest research, Sagi reports, shows that these are not the only Sephardim to have a higher risk.


The test for the mutations is available so far only at Hadassah’s genetic department, but Sagi has informed genetics advisers in hospitals around the country so they can refer Samech-Tet patients for the test, which is included in the basket of health services, as are all tests for BRCA.

Those carrying the gene should be followed up regularly to detect any cancer early and could decide to undergo prophylactic surgery to lower their risk of becoming ill. Sagi said she expects other genetic institutes will eventually be able to test for the mutations.

Breast and ovarian cancer resulting from BRCA mutations often appears at a younger age than such cancers that are not due to genetic mutations.

She suggests adding these mutations to the five mutations included in “The Jewish Panel” of BRCA1/2 mutations being tested for in Israel.

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