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Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. [3] The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation ...
Some regard these studies as exhibiting ascertainment bias [3] which created an impression that Jews are more susceptible to genetic disease than other populations. [3] [4] They cite BRCA1 and BRCA2 mutations becoming identified as "Jewish mutations," despite there being mutations at these loci found in all populations. Sheila Rothman and ...
Ashkenazi Jews make up the majority of the Jewish community in the United States and are at a higher risk of developing a BRCA gene mutation, [14] as "1 in 40 women of Ashkenazi descent carry an alteration in what are referred to as the BRCA1 or BRCA2 genes, compared to 1 in 345 women in the general population."
For people with a BRCA1 mutation, guidelines recommend routine breast imaging to detect early signs of breast cancer beginning at age 25. Screening may start sooner for people with a family member ...
The mutation might then have been "reintroduced by recurrent gene flow from Ashkenazi populations to other Jewish, European, and North African populations. The present-day frequency of the mutation in control populations (0.05% in Europeans, 0.5% in North-African Arabs and 1% in Ashkenazi Jews) may support this scenario".) [43] [44]
Only about 3%–8% of all women with breast cancer carry a mutation in BRCA1 or BRCA2. [70] Similarly, BRCA1 mutations are only seen in about 18% of ovarian cancers (13% germline mutations and 5% somatic mutations). [71] Thus, while BRCA1 expression is low in the majority of these cancers, BRCA1 mutation is not a major cause of reduced ...
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