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Study: Ashkenazi Breast Cancer Risk is Overestimated by Current Models

By 08/15/2023 10:02 PMNo CommentsBy YidInfo Staff


The likelihood of breast cancer in Ashkenazi Jewish women is overstated by current predictive algorithms.

According to a study led by experts from the University of Manchester, which will appear in the journal Genetics in Medicine next month, this is the case.

A polygenic risk score, which is a key element of breast cancer predictive models, needs to be calibrated for various ethnic groups.

According to the authors, several commercially accessible polygenic risk scores suggest that Ashkenazi Jews are of white European ancestry. However, there are significant distinctions between the two that, if overlooked, could distort models.

Therefore, the researchers compared one study that included Ashkenazi and white European subjects with a study of Ashkenazi Jews from northern Israel.

The researchers included Dr. Gareth Evans, a renowned cancer genetics expert from Manchester, and Eleanor Roberts, a doctoral candidate in cancer studies at the University of Manchester.

The research team also included academics from Haifa’s Technion-Israel Institute of Technology and Carmel Medical Center. The committee was worried that the way women are currently assessed for risk would overestimate their risk.

Because of Gareth’s affiliations with Israeli institutions, “we had the samples available to us and initially looked at an Ashkenazi group,” Roberts told JNS. We had already established that the score overestimated the risk.

The researchers believed it was crucial to look at actual hazards because polygenic risk scores are commercially available in the US. According to Roberts, it is crucial that they keep getting more accurate and that consumers are made aware of the limitations.

According to the U.S., a gene called BRCA has a mutation in about one in 40 Ashkenazi women, increasing their chance of developing breast or ovarian cancer in middle age. Department of Health and Human Services

The “founder effect,” according to the National Gaucher Foundation, explains why some genetic mutations, such as BRCA 1 mutations and Tay-Sachs disease, are more common in the Ashkenazi community.

Due to discrimination or exclusion from other social groups, the effect is most common in populations descended from a small set of ancestors. Because of the isolation, some genetic variants are more concentrated and may become more widespread over successive generations.


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