Doctor insights on:
Brca1 And Brca2 Genetic Testing
Yes: Brca1 and 2 mutation analysis is performed at myriad lab in usa. One can either use an oral swab or blood for testing. It is strongly recommended that the testing is done in the context of genetic counseling as the interpretation of the test and risk assessment for breast/ovarian cancer are complex and requires professional explanations. ...Read moreSee 1 more doctor answer
Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more
Brac1 and brac2 gene: No nobody keeps track of that because these tests are done all over the world. ...Read more
Know risk factors!: Genetic testing is recommended for: 1)a personal history of breast cancer at age 50 or younger 2)a personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, Progesterone receptor-negative and her2/neu receptor-negative) 3)a personal or family history of male breast cancer 4)a personal or family history of bilateral breast cancer 5)history of ovarian cance. ...Read moreSee 1 more doctor answer
Genetic counseling: The penetrance of a mutation defines the risk of developing the disease that one is at risk for. The penetrance of the brca mutations varies between 40-80% for women and less than 10% for men, depending on the specific mutation and patient factors. The best method to prevent breast cancer at this time is to have a prophylactic bilateral mastectomy. ...Read moreSee 2 more doctor answers
Clarifying Q & A: In the general population, the incidence of a brca1 mutation is between 1:500 to 1:800. It is much lower for brca2. For a woman or offspring to inherit the gene from a parent who has one copy of the mutated gene, there is a 50% chance of acquiring the gene in question. It is autosomal dominant and therefore can manifest its deleterious consequences by itself without need of a second copy. ...Read more
Breast cancer genes: "BR" stands for breast "CA" stands for cancer In the mid-1990s, two genes were found that are changed in many families with breast cancer. The first gene found was named BRCA1 (BReast CAncer first gene found) and the second one was named BRCA2. The search for other genes continues. ...Read moreSee 1 more doctor answer
Very high risk: Patients who are brca positive have a very high risk of developing breast cancer. They can have an 80-90% risk (over lifetime) of developing 1 breast cancer, 50-65% chance of developing a 2nd breast cancer and a 40-50% risk of developing ovarian cancer. Please see this link for more details: http://www.Cancer.Gov/cancertopics/factsheet/risk/brca. ...Read moreSee 1 more doctor answer
No: The penetrance of a mutation defines the risk of developing the disease in those that carry a particular mutation. Women with brca mutations have lifetime risks estimated between 40-80%; men's risks are much less-studied but are probably in the range of 10% or less. ...Read moreSee 1 more doctor answer
I was told that if someone was treated for breast cancer 20yrs ago with tamoxifen, that they did not carry the BRCA1 & BRCA2 mutations? Is this true?
BRCA test was not av: BRCA test is not often done, unless there is strong family history of breast Cancer in multiple members. This test was not available 20 years back, so it would not have been done. But it is not to be done except in selected cases where we suspect it may be abnormal. ...Read more
Vast issue: Genetic testing can help with diagnosis of tumors, indicate optimal treatment of tumors and other disease, help in prognostication, risk of development of some diseases, e.g. Colon cancer. Genetic testing is essential for counseling in inherited disorders, e.g., tay sachs disease. Genetic testing may be used for diagnosing diseases in the fetus and the list is increasing rapidly. ...Read more
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Genetic counselor: You should talk with a genetic counselor regarding the specific disease(s) you are worried about. The pros include being able to plan for long-term, reproductive issues, and maybe getting into a clinical trial. The cons include depression or worse with a positive test, not knowing when the disease will strike, and possibly affecting your ability to be insured (even it shouldn't). ...Read more
Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their web site is www.Rarediseases.Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder. ...Read more
Genetic tetsting: If you are having fertility problems, genetic testing is an important tool. Some people carry recessive genes for chronic illnesses or degenerative diseases that can be fatal to the fetus. Performing genetic testing on both parents-to-be will be very helpful in deciding whether even to have a baby. ...Read more
One with a board-: Certified geneticist who will examine the patient & determine what genetic tests need to be ordered. Referral by a primary care physician is needed, as well as all medical, educational & therapeutic records + a 3-generation family history of medical & psychiatric disorders. For information & support, contact http://www.Geneticalliance.Org. ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
This is a normal gene that makes a protein for basic cell functions. It was the second gene discovered that is often mutated in people at extra risk for breast cancer, and depending on the mutation these people often have increased risk of ovarian cancer as well. A person with a family history may be tested for the mutation and make ...Read more
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