Study: All Ashkenazi Women Should Be Tested for Cancer Genes

At present, women are only tested for the BRCA1 and BRCA2 mutations if they report high incidences of cancer among close female relatives.

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A patient and a technician during mammogram screening.
A patient and a technician during mammogram screening.Credit: AP

All Ashkenazi Jewish women should be routinely tested for two genetic mutations, even if they do not have a family history of breast cancer, a leading researcher said in an article published on Friday.

The connection between harmful mutations in the tumor suppressor genes BRCA1 and BRCA2 and hereditary breast-ovarian cancer is well-established, but women are typically only screened if they report high incidences of cancer among close female relatives.

Now, a research team headed Prof. Ephrat Levy-Lahad, director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem, has recommended that all women of Ashkenazi origin be screened for the genetic mutations from age 30.

The recommendation was contained in a study published on Friday in the journal Proceedings of the National Academy of Sciences.

“We should be testing people who are still healthy at a stage when we can prevent the disease,” Dr. Levy-Lahad said. “And we don’t have many diseases with a mutation that so clearly affects risk as BRCA.”

The study found that Ashkenazi women who tested positive for the genetic mutations during random screenings had high rates of breast and ovarian cancer – even when they had no family history of the disease.

Many of the women identified by the researchers would never have known they were mutation carriers if not for the screening offered by the study, the researchers said.

The study’s authors recommended routine screening of all women of Ashkenazi backgrounds for harmful mutations in the BRCA1 and BRCA2 genes.



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