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BRCA mutations have been found in people of every ethnicity. But people of Eastern European Jewish Ancestry have the highest known incidence of BRCA mutations and hereditary breast and ovarian cancer. About 1 in 40 people of Jewish descent have a BRCA mutation, about 10-fold higher than other populations. Because of the high prevalence of these mutations, there are special medical considerations that Jewish people should be aware of.
The majority of BRCA mutations in Jewish people occur in one of three sites along the genes. Genetic testing usually begins with a “Multisite 3” panel which looks for these common mutations and is less expensive than full BRCA testing, about $400. If the multisite 3 test is negative, and there is no identified mutation in the family, the more complete full sequencing looking at the entire BRCA 1 and BRCA 2 genes can be ordered. This is known as "reflex testing." The cost of reflex testing is about $3500.
It is important to consult with a genetics expert before and after undergoing BRCA testing. These experts will make sure that the proper test is ordered and that it is interpreted correctly. They will provide the latest information on genetics and risk and explain all your options.
View our section on genetic counseling to learn more and to find an expert in your area.
Fanconi Anemia is a rare inherited disorder that can affect children. Children with FA have bone marrow that doesn't produce enough blood cells. Several genes have been associated with FA, including the BRCA2 gene. A child must inherit two abnormal BRCA2 genes—one from each parent—to develop FA.
Some children with FA have physical abnormalities such as alterations in skin pigment, deformity of the thumbs, a very small head size, or short stature. Other abnormalities in the heart, kidney, genitalia or hearing may also develop. Blood abnormalities usually develop before the age of 12, and may include fatigue and paleness, bleeding or bruising problems from low platelets, or susceptibility to infections from low numbers of white blood cells.
The risk for two parents carrying an abnormal BRCA gene is highest in couples where one or both of the parents are of Jewish descent. If you or your partner’s family has a known BRCA mutation, and you are concerned about the possibility of having a child with FA, please consult with a qualified expert in cancer genetics. There are options available using IVF and PGD to select embryos that do not carry BRCA mutations.