One Thousand Years Ago and Genetic Defects? #dna

Sally Bruckheimer

The defective gene is not inherited by all Eastern European Jews, but those who have it have the same mutation. This is the same situation with Tay-Sachs Disease and Stanley Diamond's family's thalassemia, and some other blood diseases. Someone long ago had a mutation, randomly, most likely, and it is now common among Eastern European Jews.

The same thing happens in other peoples, with Cystic Fibrosis more common in the English, and some other blood diseases, but Jews are very inbred, ours are very obvious.

There are several Paget's Diseases, my grandfather had Paget's disease of the bone, which is not a cancer; I only mention it because Dr. Paget discovered several diseases.

Sally Bruckheimer
Princeton, NJ

Adam Turner seems like a reasonable starting point.

It should be noted that what you've communicated about your conversation with your doctor appears to be a rather muddled version of the facts:

  • there is no single "defective gene for breast cancer." Breast cancer is a number of different diseases which have a multitude of different causes, and only a small minority of breast cancer cases are attributable to genetics. Your doctor was probably referring to tumors that result from having a bad copy of the BRCA1/BRCA2 tumor suppressor genes, which are indeed attributable to genetics and are disproportionately prevalent in Ashkenazi Jews, but there are other genes (p53 and several others) which also have been found to cause breast cancer.
  • Ashkenazi Jews are nowhere close to 10% of all global breast cancer diagnoses. There are about 2.1 million breast cancer diagnoses per year globally, and I am pretty confident that there are not 210,000 diagnoses per year among the 5 million or so Ashkenazi women in the world. Maybe they are 10% of all diagnoses among the small subset of breast cancer diagnoses associated with BRCA1/BRCA2 mutations, although I am inclined to doubt this also, and I'm too lazy to try and hunt down the exact numbers right now. I suspect that your doctor might have been referring to a different statistic with the "10%" figure: Out of all the breast cancer diagnoses per year among Ashkenazi Jewish women, about 10% of those are attributable to BRCA1/BRCA2 mutations.
  • BRCA1/BRCA2 mutations were not inherited by all Ashkenazi Jews. Only about 1 in 40 Jewish women have a mutation in one of these genes.
  • Ashkenazi Jews are not the only population with BRCA1/BRCA2 mutations, but the reason for this is not "some non-Jewish person a thousand years ago was the first human being on Earth to have the mutation, and then they or one of their descendants converted to Judaism, resulting in both Jews and non-Jews being susceptible." Rather, there were dozens of different (though still rare) mutation events affecting the same BRCA1/BRCA2 genes that occurred at various times to people of a whole bunch of different ethnicities, and it's simply that for a variety of reasons (chiefly, that Ashkenazi Jews were a small and historically insular population), the single mutation that occurred in an Ashkenazi person centuries ago has been unfortunately conserved among Jews to a degree that other mutations to the same genes have generally not been when they occurred in people of other ethnicities. There is a chart of all the different identified mutations to BRCA1/BRCA2 that have been associated with people of dozens of different ethnicities: Dutch, Japanese, American Indians, etc. at
Adam Turner

Kenneth Ryesky

Does not necessarily have to be a convert to Judaism.  Could be a mutation in a Jewish person, with descendants who attritioned out from the Jewish people, or could be a rapacious crusader.
Ken Ryesky,  Petach Tikva, Israel     kenneth.ryesky@...

David Goldman

Hi everyone. I don't fully understand how this is possible. But a senior physician I had to see told me that the defective gene for breast cancer was inherited by all Jews of eastern European descent from a SINGLE individual, and the cancer includes an extremely rare form that affects the nipple that is passed along the generations called Paget Disease, which is even more extremely rare in men (as about 10 men per year in the United States).
I don't understand this properly, but this is how it has been explained to me. Of course we know that people other than Ashkenazi Jews from Eastern Europe suffer from breast cancer, so the only thing I could assume from this is that a single individual at that time had converted to Judaism and passed along the defect.
In any event, he told me that Ashkenazi Jews should be aware of this situation, especially since 10% of ALL breast cancer in the world is among Ashkenazi Jews who are only a quarter of one percent of the world's total population.
Does anyone have any references that discuss this subject in plain LAYMAN'S language, and who such a Jew might have been who was our collective ancestor from the 12th century?
David Goldman