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Doctor insights on: Brca1 And Brca2 Genetic Testing

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Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

Are genetic tests available to detect brca1 and brca2 mutations, and how are they performed?

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 more

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Dr. Scott McLean
1,243 doctors shared insights

Genetic Testing (Definition)

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


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Any stats on how many woman have been tested for the brca1 and brca2 gene?

Any stats on how many woman have been tested for the brca1 and brca2 gene?

Brac1 and brac2 gene: No nobody keeps track of that because these tests are done all over the world. ...Read more

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Who should take the brca1/brca2 test?

Who should take the brca1/brca2 test?

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 more

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If a man is found to have brca1 or brca2 mutations, what should his next step be?

If a man is found to have brca1 or brca2 mutations, what should his next step be?

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 more

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What do brca1 and brca2 stand for?

What do brca1 and brca2 stand for?

BReast CAncer: The brca in brca1 and brca2 stands for breast cancer susceptibility gene. They are a type of gene known as tumor suppressor genes. ...Read more

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How do you perform tests for brca1 or brca2?

How do you perform tests for brca1 or brca2?

Blood test: Usually someone with breast cancer gets tested if there is an unusual family history, though it may be done more often now. Other family members may get genetic counseling and be offered the test as well. ...Read more

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What percent of women inherit a brca1 or brca2 gene?

What percent of women inherit a brca1 or brca2 gene?

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

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Brca1 and brca2 stands for?

Brca1 and brca2 stands for?

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 more

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How are brca1 and brca2 related to the development of breast cancer?

How are brca1 and brca2 related to the development of breast cancer?

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 more

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Do brca1 and brca2 mutations affect men the same way they affect women?

Do brca1 and brca2 mutations affect men the same way they affect women?

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 more

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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?

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

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To what extent is genetic testing successful?

To what extent is genetic testing successful?

Rephrase: What do you mean by successful? Accuracy of genetic testing? Are you talking about genetic testing of an embryo? Genetic testing of an adult? What type of genetic testing? Please re-write question and we can give you a more accurate answer. ...Read more

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What are some of the positive outcomes of genetic testing?

What are some of the positive outcomes of genetic testing?

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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What are the options for individual genetic testing like 23 and me?

What are the options for individual genetic testing like 23 and me?

Question missing?: Your question appears incomplete - try again. ...Read more

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What is the earliest week that I can have genetic testing for downs?

What is the earliest week that I can have genetic testing for downs?

After 10 weeks: First trimester screening for down syndrome is done at 11 to 13 weeks. Definitive diagnosis through cvs sampling and chromosomal analysis can be done after 10 weeks. ...Read more

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What are the disadvantages and advantages of getting genetic testing done.?

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

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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Is genetic testing for adrenoleukodystrophy possible?

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

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Why should I have genetic testing done for reproductive purposes?

Why should I have genetic testing done for reproductive purposes?

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

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What is the best clinic for genetic testing?

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

Genetic (Definition)

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


Brca2 Gene (Definition)

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