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Testing can help women better understand and manage their risk for breast and ovarian cancer.
BRCA testing and hereditary cancer can be complicated, and genetic testing does not always provide a simple "yes" or "no" answer about hereditary cancer risk within a family. There are test results that are considered "uninformative" which do not provide any additional information about cancer risk within a family.

An expert in cancer genetics can help explain these benefits and limitations further and determine whether or not genetic testing is appropriate and likely to give a person further information about his or her cancer risk.

BRCA prevalence
Most cases of cancer are considered “sporadic” and their cause is unknown. (Visit our section on sporadic vs. hereditary cancer for more information on the differences between these two types of cancer.) About 10% of many cancers—including breast and ovarian cancer—are considered hereditary. BRCA mutations can happen in any population, and mutations have been found in families of all ethnicities. People of certain heritages are more likely to carry BRCA mutations, but families of any ethnic background can carry a mutation.

Experts estimate that, in the general population, one in every 300 to 500 people harbors a BRCA mutation. BRCA mutations are more common in people of Eastern European (Ashkenazi) Jewish descent. It is estimated that one in every 40 people of Eastern European Jewish descent (2.5% of this population) carries a BRCA mutation. Members of certain other ethnic groups may also be more likely than those in the general population to carry a BRCA mutation. However, it is important to remember that any family can have a BRCA mutation, regardless of its ethnic background. Various factors—such as the number of people with cancer, their relationship to each other, age of onset of cancer, and types of cancer—affect the likelihood of a BRCA mutation within a family. A specialist in cancer genetics can look at your heritage and family history, and help determine the likelihood that your family has a BRCA mutation.

Test results
There are three possible test results with BRCA testing: a positive test result, a negative test result, or a “variant of uncertain significance.” A positive BRCA test result will indicate that a “deleterious mutation” was found in either the BRCA1 or BRCA2 gene (or, rarely in both genes). This means that a change was found in the gene which is known to increase the risk for cancer. A negative BRCA test result means that no such gene mutation was found. A “variant of uncertain significance” means that a change was found that may or may not increase the risk for cancer.

Genetic testing may have a wide range of effects on people and their families. Sometimes people need additional support from psychologists or other health-care professionals to help them work through the consequences of their test results. Most genetics specialists work with mental-health care professionals who are skilled in helping people cope with genetic test results. Some people find it helpful to speak with other people who have had genetic testing. FORCE has a rich community of members who have had personal experience with genetic counseling, genetic testing and hereditary cancer. For information visit our section on finding support.

It is important to consult a genetics expert to help interpret and explain genetic test results and provide management recommendations.

Positive test results
A woman who tests positive for a BRCA gene mutation has an increased lifetime risk for breast and ovarian cancer and certain other cancers compared to women in the general population. Even with a positive genetic test, the risk for cancer is not 100%; it is possible to have a BRCA mutation and never develop cancer. A specialist in cancer genetics can help estimate the risk for breast and ovarian cancer in a BRCA mutation carrier. A positive BRCA test can affect treatment options for women diagnosed with cancer, and can affect screening options for women who have not had cancer. It is important to have a health care team that is experienced in managing women with hereditary cancer risk. For more information visit our section on risk management options. Some carriers of a BRCA mutation may be able to enroll in research studies to help prevent cancer, detect cancer early, or treat hereditary cancer. For more information visit our page on research studies.

A man who tests positive for a BRCA gene mutation may be at higher risk for male breast cancer, prostate cancer, and other cancers compared to men in the general population. However, it is possible for a man to have a BRCA mutation and never develop cancer. It is important for a man who tests positive for a mutation to have a health care team that is experienced in monitoring men with BRCA mutations.

A positive test in either a man or woman means that other relatives are at risk for carrying a mutation too. BRCA mutations can be passed on from the father or the mother to a son or daughter equally. There is a 50% chance that a parent will pass on a BRCA mutation to each of their children. It is important to discuss with a specialist in cancer genetics who in the family may be at risk, and who should be informed of genetic test results. For more information visit our page on sharing family medical information.

Negative test results
The significance of a negative BRCA test result depends on the individual and family circumstances of the person being tested. In a family in which a BRCA mutation has already been identified, a negative test can mean that the person does not have a higher risk for breast or ovarian cancer than the general population. In a family with a known mutation, screening recommendations are different for someone who tests BRCA negative than for someone who tests positive. However, since cancer is a common disease and since most cancer has no known cause, a negative genetic test does not guarantee that a person won’t develop cancer in his or her lifetime.

Sometimes hereditary breast and ovarian cancers can be caused by changes in genes other than BRCA1 or BRCA2. Mutations in other genes will not show up in a BRCA test. There are tests for some of these other genes. A specialist in cancer genetics can interpret a negative test result and help you determine whether another genetic test may be appropriate for a your family. For more information visit our page on other hereditary cancer syndromes.

Experts believe that there are other genes related to breast and ovarian cancer risk for which tests are not yet available. In families with a hereditary pattern of cancer but no identified mutation, a negative genetic test cannot entirely rule out a hereditary cancer syndrome. Therefore, members of families with no identifiable gene mutation but a hereditary pattern of cancer may still be at higher risk for cancer than people in the general population, even if they test negative for BRCA or other gene mutations. Certain families with a large number of cancers and no identified mutation may qualify to participate in research looking for other genes that might be linked to hereditary cancers. For more information please visit our page on participating in research.

Variant of uncertain significance
Genes tell our bodies which proteins to make. Not all changes in genes are bad. Some gene changes can mean the difference between black hair and blonde hair, or the difference between brown eyes and green eyes. Other gene changes, called mutations, can cause our body to make proteins that don’t work correctly. Some people receive a BRCA test result called a “variant of uncertain significance.” This means that, at the time of testing, the laboratory cannot determine whether the gene change is a “deleterious change,” which increases the risk for cancer, or a variant which does not increase cancer risk. Over time, as more family members are tested for the variant, sometimes the laboratories will determine whether or not these changes are “deleterious” and will “reclassify” the test result. It is important for people who test positive for a variant of uncertain significance to stay in contact with their genetics specialist to learn if their variant has been reclassified to a deleterious or a harmless mutation. There are research studies looking at whether variants are “deleterious” or harmless. For more information visit our page on participating in research. Cancer screening and risk management recommendations for people who test positive for a variant of uncertain significance are usually different than recommendations for people who test negative and for people in the general population.

Uninformative tests
Sometimes variants of uncertain significance results are considered “uninformative tests” because they don’t provide additional information about a person’s cancer risk. Certain negative test results may also be considered uninformative. In families where there is a strong family history of cancer, the preference is to test someone who has had cancer first. In such a family, if there is no cancer survivor to test first, a negative test may be considered uninformative because it may mean any one of three very different things:

there is a mutation in the family and the person who was tested doesn’t carry that mutation
the cancer in the family is not hereditary and is instead sporadic cancer
the cancer in the family is due to a mutation in a different gene or in a gene which has not yet been discovered and for which there is no available test
It is important to consult a genetics expert to help explain uninformative genetic test results and provide screening recommendations for people with an uninformative test result.