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Health & Fit When You Should Start Getting Mammograms If You Have the BRCA Gene Mutation

00:10  19 october  2019
00:10  19 october  2019 Source:   allure.com

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Mutations on the BRCA 1 or BRCA 2 genes are the strongest indicators that a woman (or man) may The other reason doctors will test for a BRCA mutation is if you have been diagnosed with breast “The alternation of mammograms and MRIs every six months has been shown to find more cancers

BRCA mutations . Cancer risks. Ethnicity. Getting tested. Positive results. Takeaway. Overview. Your DNA is like a blueprint that can be broken down into So, how do you know if you should get tested for the BRCA gene mutation ? Here’s a breakdown of the risk factors and what it means to have this

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Medical advancements like genetic testing mean we can detect our individual risk for developing serious illnesses earlier than ever — and, more importantly, take measures to protect our health. Still, learning you may be genetically predisposed to develop an illness — like if you have a BRCA gene mutation — can be overwhelming.

According to the Centers for Disease Control and Prevention (CDC), about one in 500 people have a BRCA gene mutation, which comes with a higher risk for both breast and ovarian cancer. But what, exactly, does carrying a BRCA mutation mean, and what’s the best way to safeguard your health if you find out you have one? We spoke with three experts to find out.

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BRCA : The Breast Cancer Gene . What To Do If You ’ve Tested Positive. Your doctor can help recommend which screenings you should have , and when you should have them. If someone with a BRCA mutation does develop breast cancer , the treatments used may be different than for people

Who should consider BRCA gene testing? You might be at increased risk of having an inherited gene mutation that increases the risk of breast and ovarian A positive test result means that you have a mutation in one of the breast cancer genes , BRCA 1 or BRCA 2, and therefore a much higher risk of

What is the BRCA gene mutation?

The name “BRCA” is short for “BReast CAncer gene” — but it’s important to know that BRCA genes themselves don’t cause cancer. BRCA genes are normal genes everyone has, and they actually help prevent cancer by repairing DNA damage that could lead to tumor growth. Dorraya El-Ashry, chief scientific officer at the Breast Cancer Research Foundation, says the potential issues arise when an individual has a BRCA gene mutation, which is essentially a BRCA gene that doesn’t repair damaged DNA — thus increasing an individual’s cancer risk.

“Mutated BRCA1 and BRCA2 fail to do their jobs, and that can increase the risk for breast and ovarian cancer in women, for prostate cancer in men, and for pancreatic cancer,” El-Ashry says.

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BRCA gene mutations can increase you risk of breast and ovarian cancers . If you have one of these mutations , here's what you should know your The first is to get on a frequent screening schedule that includes both mammograms and MRIs, says Clark. Because mammograms use radiation, it’s

While my mother was undergoing treatment for breast cancer , she got the result that she had tested positive for the gene mutation . I wasn’t surprised when I tested positive for the BRCA 1 gene mutation at 19. Then, after five months of breast self-exams, I found a lump, which was confirmed by

While a BRCA gene mutation leads to a higher risk of several cancers in all genders, it’s primarily associated with an increased risk of breast cancer in women. Melissa L. Pilewskie, a breast surgeon at the Memorial Sloan Kettering Cancer Center (MSKCC) and director of strategic planning and research of the RISE Program, which helps follow women at high risk for breast cancer, says the greatest risk in cancer seen among women with a BRCA mutation is breast cancer, followed by ovarian cancer.

When to begin care for preventing breast cancer depends on a person’s individual risk factors, but can start as early as your mid-20s.

El-Ashry says about 12 percent of women in the general population is at risk of having breast cancer in their lifetime, but the likelihood of diagnosis goes up to about 70 percent for those with a BRCA mutation.

How do BRCA1 and BRCA2 differ?

Both BRCA1 and BRCA2 mutations come with unique cancer risks, according to Pilewskie. BRCA1 mutation carriers are more likely to develop triple-negative cancer, a more aggressive, difficult-to-treat type of cancer. BRCA2 carriers, on the other hand, are more likely to get estrogen-positive cancer, a form of breast cancer involving the hormone estrogen.

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You can get the mutation from either your mother or your father. Our known history was all on my mother’s side of If you test positive for BRCA mutation , your risk increases as much as 72 percent for breast cancer and 44 Lowering Your Ovarian Cancer Risk If You Have a BRCA Gene Mutation .

BRCA 1- and BRCA 2-related cancers often test negative for overexpression of the gene known as If you have a BRCA 2 mutation , however, you are more likely to be a candidate for hormonal therapy. Men should receive yearly clinical breast exam starting at age 35, and they should start performing

However, it's important to note that the level of risk for developing breast cancer doesn’t differ much for each gene mutation: El-Ashry says a BRCA1 mutation leads to a 72 percent risk of developing it by age 80, and a BRCA2 mutation comes with a 69 percent risk.

What does having a BRCA mutation mean for patient care?

No matter which type of mutation someone has, Pilewskie says annual screenings are the first step. While we advise average-risk individuals to start getting yearly mammograms in their 40s, BRCA mutation carriers need different types of screening, sooner and more often. According to El-Ashry, “active screening” methods include self-exams, bi-annual clinical exams, and annual mammograms, and breast MRIs.

“When I see someone with a BRCA mutation, it increases the type of screening we would do,” says Pilewskie. “We want to increase surveillance, but we know this doesn’t reduce the risk; it just detects cancer at an earlier stage.”

Julia Smith, an oncologist at the Perlmutter Cancer Center, says in addition to mammograms, those with mutated BRCA genes may also want ultrasounds and annual breast MRIs, which are more sensitive and could detect signs of cancer earlier. “For breast cancer surveillance, I recommend a mammogram with ultrasound, alternating every six months with MRI,” she says.

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The BRCA gene test can identify inherited gene mutations that leave carriers with elevated cancer risk. But many women are scared to get the test High-risk surveillance via frequent mammograms and MRIs can catch cancers earlier, when they’re more treatable. Just taking birth-control pills can

More on Breast Cancer . When to Get a Mammogram . ( BRCA mutations account for a fifth to a quarter of inherited breast cancers , and only about 5 to 10 percent of all Finding out you have a genetic mutation can help your other family members decide if they should get tested, because they

According to data from Memorial Sloan Kettering, on average, for women with an altered BRCA1 gene, the risk of developing ovarian cancer is 40 to 60 percent by age 85. For BRCA2 mutations, the risk for cancer of the ovary is also increased — between 16 and 27 percent by late age. For these women, additional screening may be necessary, though Smith noted that screening has not yet been shown to change overall survival.

Since ovarian cancer is more difficult to screen, Smith says the general recommendation for BRCA mutation carriers is prophylactic removal of the ovaries and fallopian tubes (often, ovarian cancer starts in the fallopian tubes). Taking birth control pills for five years can also significantly decrease the risk of developing ovarian cancer, according to Smith.

For other types of cancer, screening recommendations can vary by organization. For example, according to Pilewskie, the National Comprehensive Cancer Network (an alliance of 28 cancer centers in the United States) states that individuals with a BRCA mutation should be educated on additional cancers that may be associated with these mutations, but there are no specific guidelines for screening for other cancers, in particular for pancreatic cancer, at this time.

Smith recommends that people with BRCA mutations should also have regular screenings of their skin and eyes to check for melanoma, along with GI surveillance to screen for pancreatic cancer, though she noted that pancreatic screening will be somewhat dependent on the family history as well.

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Your doctor might recommend that you get tested for BRCA mutations if you ’ve been diagnosed with certain So while getting a preliminary test at home seems like a convenient way to get started , some Specifically, this new test looks for three mutations found on the BRCA 1 and BRCA 2 genes .

Because she knew she had a BRCA 1 gene mutation – putting her at a significantly higher risk of developing breast and ovarian cancer – and a strong family history of breast And when you have a mastectomy prophylactically, you have more choices than when you do it with a cancer diagnosis."

“These cancers are a much lower risk, and it’s much more likely they will never have them, but the point is, they’re elevated over the general population,” Smith says. “Since we have screening, it’s worth considering.”

What are the preventative care options for both gene mutations?

Whether you have additional risk factors or you simply want to be more aggressive in your preventative care, there are a few effective methods for reducing your cancer risk.

The most reliable (though also the most intrusive) way to prevent breast cancer for both BRCA mutations is to remove the breasts. “With prophylactic mastectomies, we reduce the risk by about 95 percent for breast cancer, so it’s very effective, but it’s a big decision,” Pilewskie says. “Since we often talk about breast reconstruction sometimes it’s more than one operation.”

For preventing ovarian cancer, removal is the most reliable method. “Women with a BRCA1 mutation are at a slightly higher risk for ovarian cancer at a younger age, so we usually start the discussion around removing ovaries between ages 35 and 40, and for BRCA2, between ages 40 and 45,” Pilewskie says.

"The optimal recommendations for screening and risk reduction really depend on the magnitude of risk."

Since oophorectomies interfere with childbearing, it’s important that those who want to have children talk to their doctors to come up with a plan for risk reduction and family planning. Prior to ovary removal, Smith says taking birth control pills for five years can reduce the risk of ovarian cancer — then, someone who wants to get pregnant can stop the birth control pills prior to having their ovaries removed.

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Although BRCA gene mutations can raise your risk of developing a variety of different cancers , like that of the pancreas, they’re most closely linked with increased odds of getting breast If you already have a cancer diagnosis, your specific risk factors will help determine if you should get BRCA testing.

When considering genetic testing for BRCA , you and your doctor will obviously take a close look at your family history. He or she will try to construct The confusion comes when deciding how many cases indicate a pattern. Also, it should be pointed out that BRCA mutations are also passed on

There’s also the option of having a prophylactic oophorectomy at an earlier age and freezing your eggs. To reduce the risk of passing a BRCA mutation on, Smith says some carriers choose to do pre-implantation genetic testing and fertilize the embryos without BRCA mutations. “This means in vitro fertilization instead of natural intercourse insemination, but it’s an important option to be aware of,” she says.

When should people without the gene mutation start getting preventative care?

When to begin care for preventing breast cancer depends on a person’s individual risk factors, but can start as early as your mid-20s, according to Smith. According to the CDC, average-risk people should generally begin getting annual mammograms in their forties. Though, Pilewskie noted there are now a number of differing recommendations for when to start screening for average-risk people ranging from age 40 to 50. And at MSKCC, they continue to recommend annual screening beginning at age 40 for average-risk people.

Pilewskie says for those with a family history of breast cancer, MSKCC recommends screening at age 40, or 10 years younger than the youngest family member with breast cancer. For example, “if you have a first-degree relative who had a diagnosis at age 45, you would start screening in your mid-30s,” says Pilewskie.

But again, El-Ashry stresses the importance of having this conversation with your doctor. “For some it is even earlier than 40 and this is really where you need to have a discussion with your doctor about risks to determine when to begin screening,” says El-Ashry.

“The optimal recommendations for screening and risk reduction really depend on the magnitude of risk,” says Pilewskie. For those with moderate risk factors, Pilewskie says they determine the appropriate screening based on the type of risk factors. For example, MRI is recommended for women with a strong family history, those with a genetic mutation that increases risk, and those with a history of chest wall radiation at a young age. “Prophylactic mastectomies are normally reserved for women at the highest risk. Chemoprevention is another option for women at moderate risk,” says Pilewskie.

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Men get breast cancer as well, and there’s a link to prostate and pancreatic cancer, so this affects everyone. Another is a belief that if you have the HC: At what point should someone who suspects they may have the gene mutation get the test? Dana Clark: BRCA does not have pediatric cancer

No matter what your breast cancer risk, simple lifestyle changes like exercising more and drinking less can help lower your chances of a diagnosis. “The things we discuss where there’s some science to suggest a link are exercise, avoidance of obesity, and alcohol in moderation,” she says. “Those are things we counsel everyone who comes in.”

The most important thing for anyone who wants to be proactive about cancer risk, is to work with a genetic counselor and clinician to assess your personal risk factors, says Smith. “You have to have someone who really understands and can design an appropriate screening regimen, given your own individual risk,” she says. “You want to do whatever you can to protect yourself.”

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Triple Negative Breast Cancer: Everything You Need to Know .
Triple negative breast cancer has different treatments and outcomes than other types.Thanks to deeper research, experts have more knowledge about this form of breast cancer. That's helped doctors develop better ways to treat it, which has led to better outcomes for patients. Here's the latest information on the symptoms, risk factors, and treatment of triple negative breast cancer (TNBC).

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