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Doctor insights on: Brca 1 And Brca 2

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My 34yr sister had brca1and2 testing.Her brca 2 sequencing back positive as "likely pathogenic".What does that mean?Negative for brca 1 sequenc/depdup

My 34yr sister had brca1and2 testing.Her brca 2 sequencing back positive as "likely pathogenic".What does that mean?Negative for brca 1 sequenc/depdup

Genetic counseling: Brca mutations lead to high risks for breast and ovarian cancer, a genetic counselor can assist with explanations of the testing and implications. ...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


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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

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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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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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Brca 2 pos. Age 68 is mastectomy recommened?

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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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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What does the brca in brca1 stand for?

What does the brca in brca1 stand for?

Breast Cancer: 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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If a brca 1-2 test comes back positive, is a bilateral mastectomy the best option?

Risk reduction: The "best" option is a personal choice. Options to lower breast cancer risk for patients with a BRCA1 or BRCA2 mutation include: -bilateral mastectomy which removes most but not all of the breast cells, and reduces risk the most (by 90-95%) -breast MRI and mammogram does not reduce risk but finds breast cancer early when it is more treatable -chemoprevention to prevent getting breast cancer ...Read more

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Hi, can you recommend a company that can test me for the brca 1 and 2, that offers international service? My mother died from ovarian cancer at age 57

Hi, can you recommend a company that can test me for the brca 1 and 2, that offers international service? My mother died from ovarian cancer at age 57

Not that simple: Just your mother's ovarian cancer is not enough to qualify, for genetic screening. Have to meet other criteria myriad genetic lab has patent on brca i & ii testing , through your doctor out side usa can be tested , by contacting mblom@myriod.Com and it is expensive ( most of med insurances will not cover ). ...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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