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Doctor insights on: Brca 2 Gene Mutation

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34yr old sister had a brca test done.Her results came back as positive for one copy of c.6937+594t> g mutation in brca 2 gene.What does this mean?

34yr old  sister had a brca test done.Her results came back as positive for one copy of  c.6937+594t> g mutation in brca 2 gene.What does this mean?

? deleterious, now U: The testing report should specify if this is a "deleterious" mutation. If it is, then it is present throughout all her breast tissue increasing her risk of a second/subsequent breast cancer. It also confers a significant risk of ovarian cancer. As a 1st degree relative, you would have a 50% chance of carrying the same mutation and should be tested for this specific mutation. ...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


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Can you tell me how i could find the interview i saw about brca gene mutation?

Can you tell me how i could find the interview i saw about brca gene mutation?

Information's handy: There are plenty of evidence-based sites dealing with the BRCA genes and their mutations. Don't chase down a particular interview. The science is well-established. Be discerning and get with your physician if you feel you need to be tested. ...Read more

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Please i need help...i want to know the cost of brca gene mutation ? And does the test found in all the countaries

Please i need help...i want to know the cost of brca gene mutation ? And does the test found in all the countaries

Variably expensive: These are very expensive tests and they are not necessary or indicated unless you have a close family history of breast cancer. Even then, having the mutation does not mean that you will definitely have cancer. Better to do annual mammograms and self exams. The tests are available in the US and many other countries but not everywhere and may cost US$2000-4000 ...Read more

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Can you tell me, are all brca gene mutations hereditary?

Can you tell me, are all brca gene mutations hereditary?

Good question. : The answer is no, a small number of patients with early onset breast cancer who carry a bad brca 1 or 2 mutation develop it "de novo", meaning that it started with them (after all, someone has to be the first to have it). Depending at which stage in development it happens, it may affect them to a different degree and may or may not be passed to their children. Some other cancer syndromes.. ...Read more

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Are all brca gene mutations hereditary? Can you share some sources?

BRCA mutations: The majority of brca mutations are inherited from your mother or father. There are some which occur de novo(without inheritance). There is considerable information on the website for myriad- this is the company which has been doing the commercial testing in the usa. ...Read more

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How serious is having the brca-2 gene?

How serious is having the brca-2 gene?

Always serious: Women w/ 2+ immediate family members w/ a hx of breast/ovarian CA at 50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing. ...Read more

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I tested positive for harmful brca 2 mutation....So unsure what to do ?

Genetic Counseling: Have you met with a genetic counselor? If not, i strongly recommend this. Testing brca-2 (+) puts you at an increased risk for breast and ovarian cancer (as well as ca of the stomach, pancreas, gallbladder, bile ducts, and melanoma). Options include surgical prophylaxis (mastectomy, oophorectomy), chemoprevention, and close surveillance. These decisions are best made with a professional. ...Read more

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Found out I am positive for mutation in brca 1 gene advice needed please?

Found out I am positive for mutation in brca 1 gene advice needed please?

Life planning: This is something to discuss closely w/ your MD. Ovarian CA more likely w/ BRCA1 than BRCA2. Women w/ either BRCA have >50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing includes removal of the uterus, ovaries, and fallopian tubes, as well as mastectomy. Good luck. ...Read more

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Is nipple sparing mastectomy safe for brca 2?

Is nipple sparing mastectomy safe for brca 2?

Yes: Many studies have been published demonstrating this option to be safe, both for treatment of breast cancer and prevention in women with brca mutations. No surgery will take the risk of subsequent breast cancer down to zero--there is always some breast tissue left behind, albeit microscopic. Therefore, it stands to reason that the more left behind, the higher the risk; yet, it remains quite low. ...Read more

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Brca 2 pos. Age 68 is mastectomy recommened?

It is an option...: ...But not the only one. Any person with an inherited cancer trait or a strong family history of cancer should discuss their management with a specialist in cancer genetics. No such thing as one size fits all. Good news is that by knowing you have a mutation, you have the tactical advantage. Best to you. ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...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