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Genetic Testing Offers Best Defense Against Breast Cancer: Top Doc

Genetic Testing Offers Best Defense Against Breast Cancer: Top Doc
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By    |   Friday, 06 May 2016 03:08 PM

The “Angelina Jolie effect.” Health experts have coined the phrase to describe how the actress’s public disclosure about her struggle with breast cancer has increased awareness of the benefits of genetic testing as a way to speed treatment for the disease, which kills more than 40,000 American women annually.

In 2013, Jolie had both breasts surgically removed after genetic tests revealed she carries a genetic mutation in her so-called BRCA1 gene that dramatically increases the chance of being diagnosed with potentially fatal breast cancer. The gene defect left the mother of six with an 87 percent greater risk of developing breast cancer and 50 percent risk of ovarian cancer.

Dr. Marisa C. Weiss – chief medical officer of the advocacy group Breastcancer.org – tells Newsmax Health the actress's decision to go public with details of her double mastectomy and reconstructive surgery was “enormously helpful” in improving the public's understanding of breast cancer treatment options and the benefits of genetic testing.

“Her bravery and willingness to share her story has given a lot of women the courage to step forward and explore their own family history, start a conversation with their doctors about risk, and seek appropriate genetic testing,” says Weiss, a breast oncologist in practice at Philadelphia’s Lankenau Medical Center and the author of five books on the topic.

In an interview with Newsmax Health, Weiss says major advances in genetic research over the past decade now offer women, and men predisposed to developing breast cancer unprecedented opportunities to find out if they are at risk – and take appropriate actions that can save their lives.

Excerpts from Wesss’s interview follow.

Q: What do most women need to know about gene testing?

A: Only 10 percent of breast cancers are mostly due to an inherited genetic mutation, like what Angelina had, BRCA 1. Most women who get breast cancer do not have a family history or an inherited genetic mutation. Most breast cancers occur from the wear and tear of living including a list of modifiable lifestyle, reproductive, and environmental exposures.

All that said, genetic testing is underutilized. Breast cancer is the most common cancer to affect women and even 10 percent of cases adds up to many precious lives. These genetic mutations are associated with a very high level of risk. Finding out if you have an inherited high risk mutation, gives you more options to protect and save your life.

Q: What can you do if you find out you have a genetic mutation?

A: For prevention, finding out about an inherited abnormal breast cancer gene gives you the chance to take steps to prevent cancer before it has the chance to start, with options like risk-reducing medications and prophylactic surgeries.

In addition, there is important family planning, other reproductive choices, and everyday lifestyle choices that can also help. It's also important to take steps to reduce the risk of other cancers which go along with the same genetic mutation, like ovarian cancer. For women diagnosed with breast cancer, finding out if you have an inherited genetic mutation, can have a big impact on selecting your most effective treatment options.

Specific chemotherapies can be extra effective in women with a BRCA1 (and BRCA2) cancer, like Cisplatin. A therapeutic mastectomy might be selected for the treatment of the breast affected by the cancer and a prophylactic mastectomy might be chosen for the other side, to help both reduce the risk of recurrence or the development of a new cancer.

Q: What factors should go into a woman’s decision about whether to undergo testing?

A: Genetic testing is recommended for women – usually 25 or older – who are most likely to carry the genetic mutation, like:
  • Women with a strong family history of breast, ovarian, pancreatic, melanoma, and other such cancers – especially if they occur at young ages in multiple blood relatives, on either/both the mother or father's side.
  • Women who have Ashkenazi Jewish heritage – coming from Eastern or Central Europe.
  • Women diagnosed with breast cancer under age 50.
  • Any man diagnosed with breast cancer at any age.
  • Anyone diagnosed with "triple negative" breast cancer.
These are the main categories, but it's important to have a conversation with your doctor regarding your individual risk.

Q: What tests are available?

A: Many new tests are available to test for significant inherited mutations. Focused testing on just the three main "founder mutations" on the breast cancer genes, BRCA1 and 2, can be done. Or if a broader range of genes need to be checked out, then "panel testing" may be recommended.

Q: Does a positive test mean a woman will definitely develop breast or ovarian cancer?

A: No. Inherited genetic mutations such as BRCA1 or 2 both convey a high level of life-long risk, ranging from 40-87 percent, depending on the group studied. It's not 100 percent. But given the high risk these genetic mutations produce, it makes sense to find out if you have one, so that you can take the time-sensitive, powerful bold steps required to substantially reduce your high risk.

Q: Is double mastectomy the best solution?

A: Double mastectomy is the single most powerful step to reduce the high risk that is associated with a BRCA 1 or 2 genetic mutation. It can reduce your risk by 90-plus percent. Doing this surgery is not an emergency. But, the sooner this procedure is done, before a cancer has the chance to develop, the greater the chance to avoid getting cancer in the first place.

There are other ways to reduce the risk of breast cancer, like with anti-estrogen hormonal therapy (like tamoxifen), especially in women who carry the BRCA2 mutation –  that's more likely to be associated with hormone receptor positive breast cancer (BRCA1 mutations are more likely to produce a "triple negative" breast cancer).

Very close surveillance is necessary for women with a BRCA1/2 genetic mutation. For breast surveillance, digital mammography alternating with MRI is recommended every 6 months (e.g. a mammogram in January, MRI in June). An expert clinical breast exam is also important. It is also critical to be followed closely by an ob-gyn expert, to help reduce and watch for the high risk of ovarian, fallopian tubes, and peritoneal cancers (the inside lining of the pelvic and abdominal cavities).

Q: Should men consider a test?

A: Any man with breast cancer should have genetic testing. Women seeking genetic testing who have a family history of breast and related cancers on the father's side may ask their father to obtain genetic testing, to help identify and define the impact of inherited genes in the members of their family.

Most people don't know that genetic risk is equally inherited from your mother and your father.

© 2021 NewsmaxHealth. All rights reserved.

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Angelina Jolie’s bold decision to go public with her breast cancer battle helped raise awareness of genetic testing for women at risk. As we prepare to celebrate Mother's Day, a leading breast cancer specialist details the latest on such testing and its life-saving potential.
gene, testing, breast, cancer, saves, lives
Friday, 06 May 2016 03:08 PM
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