Guidelines say more women may need breast cancer gene test

More women may benefit from gene testing for hereditary breast or ovarian cancer, especially if they've already survived cancer once, an influential health group recommended Tuesday.

At issue are genes called BRCA1 and BRCA2. When they're mutated, the body can't repair damaged DNA as well, greatly increasing the chances of breast, ovarian and certain other cancers. Gene testing allows affected women to consider steps to lower their risk, such as when actress Angelina Jolie underwent a preventive mastectomy several years ago.

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10 celebrities get real about breast cancer
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10 celebrities get real about breast cancer

Julia Louis-Dreyfus

The 56-year-old was most recently diagnosed with breast cancer soon after the 2017 Emmy Awards. She confirmed the diagnosis on Instagram, quickly calling attention to the plight of other women who don't have health care. 

"1 in 8 women get breast cancer. Today, I'm the one. The good news is that I have the most glorious group of supportive and caring family and friends, and fantastic insurance through my union. The bad news is that not all women are so lucky, so let's fight all cancers and make universal health care a reality," she wrote in the post

Angelina Jolie 

In 2013, at age 37, the actress wrote a New York Times piece about her experiences with breast cancer and the BRCA1 gene. She had an 87% risk of breast cancer, 50% risk of ovarian cancer, so she took preventative action, including a double mastectomy and the later removal of her ovaries and fallopian tubes.

"Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could. I made a decision to have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex," she wrote.

Continuing in the New York Times, But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.

  

Cynthia Nixon

At 40, the acclaimed actress was diagnosed with breast cancer after a routine mammogram in 2006. She decided to keep it private for a year after her diagnosis. 

At age 12, Nixon watched her mother battle breast cancer and knew the importance of preventative care. 

"I’ve learned that if you catch breast cancer early, the chances are overwhelmingly good that you’ll be cured. So my attitude, which very much mirrored my mother’s, was this wasn’t a big deal," the star said, according to Marie Claire

Giuliana Rancic 

In 2011, after the diagnosis of an early-stage tumor, the host underwent a double mastectomy and reconstructive surgery.

She said to Glamour: "....My doctor said, "We have great news in one breast and bad news in the other. You need to start thinking about a mastectomy." That had been the furthest thing from my mind. I knew nothing about breast cancer before this happened to me, and I thought mastectomy meant stage three or four cancer. I didn't have a big family history of it. I just never thought it would happen to me. I really didn't."

Shannen Doherty

The former "Beverly Hills, 90210" star was diagnosed in 2015 and regularly documented her battle on social media. After going through chemotherapy, she announced she's in remission in April 2017. 

"Moments. They happen. Today was and is a moment. What does remission mean? I heard that word and have no idea how to react. Good news? YES. Overwhelming. YES. Now more waiting. As every single one of my fellow cancer family knows, the next five years is crucial. Reoccurrences happen all the time," she shared on social media

Sheryl Crow

In 2006, the singer publicly announced she was battling the disease after she underwent "minimally invasive surgery." 

"I am inspired by the brave women who have faced this battle before me and grateful for the support of family and friends," she said according to ABC News

Olivia Newton-John

In 2017, the 68-year-old singer and actress revealed she was once again battling breast cancer. After her first diagnosis in 1992, she underwent a partial mastectomy as well as chemo. 

"I am really grateful for and touched by the worldwide outpouring of love and concern. Thank you. I am feeling good and enjoying total support from my family and friends, along with a team of wellness and medical practitioners both here in the US and at my Olivia Newton-John Cancer Wellness and Research Centre in Melbourne, Australia. I’m totally confident that my new journey will have a positive success story to inspire others!” she said exclusively to People in June

Melissa Etheridge

Because of the singer's family history, Etheridge was "vigilant" about examinations before eventually being diagnosed in 2004. 

"I am the healthiest I have ever been in my life. It excites me every day when I can wake up and feel energy and feel good and feel purpose. The changes I made were big and not easy. Sugar is a drug, incredibly addictive. That one change can make a huge difference in your life," she said to ABC News in 2015

Christina Applegate

At 36 years old, the actress was diagnosed with breast cancer in 2008. After biopsies and a lumpectomy, as well as radiation, she tested positive for the BRCA gene.

Later, she underwent a double mastectomy. "It came on really fast. It was one of those things that I woke up and it felt so right," she says. "It just seemed like, 'I don't want to have to deal with this again. I don't want to keep putting that stuff in my body. I just want to be done with this.' & I was just going to let them go," she said according to CNN.

Rita Wilson

In 2015, it became known that the actress was battling breast cancer and underwent both a double mastectomy and reconstructive surgery. 

Since then, she's been outspoken about encouraging others to be vigilant about routine checks.

"Last week, with my husband by my side, and with the love and support of family and friends, I underwent a bilateral mastectomy and reconstruction for breast cancer after a diagnosis of invasive lobular carcinoma. I am recovering and most importantly, expected to make a full recovery. Why? Because I caught this early, have excellent doctors and because I got a second opinion," she said according to People

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Most cancer isn't caused by BRCA mutations — they account for 5 percent to 10 percent of breast cancers and 15 percent of ovarian cancers — so the gene tests aren't for everyone. But mutations cluster in families, and the U.S. Preventive Services Task Force has long recommended that doctors screen women who have relatives with BRCA-related cancers and refer those who might benefit from gene testing to a genetic counselor to help them decide.

Tuesday, the task force expanded that advice, telling primary care doctors they should also assess women's risk if:

  • they previously were treated for breast or other BRCA-related cancers including ovarian, fallopian tube or peritoneal cancers, and now are considered cancer-free.
  • their ancestry is prone to BRCA mutations, such as Ashkenazi Jewish women.

Why screen breast cancer survivors? After all, they already know there's a risk of recurrence.

Take, for example, someone who had a tumor removed in one breast in their 40s a decade ago, when genetic testing wasn't as common. Even this many years later, a BRCA test still could reveal if they're at risk for ovarian cancer — or at higher than usual risk for another tumor in their remaining breast tissue, explained task force member Dr. Carol Mangione of the University of California, Los Angeles. And it could alert their daughters or other relatives to a potential shared risk.

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Tattoo artist gives new nipples to breast cancer survivors
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Tattoo artist gives new nipples to breast cancer survivors
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, takes a picture of the nipple he has tattooed on the reconstructed breast of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera TEMPLATE OUT
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, reacts upon inspecting the breasts of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera
Inks are seen on a table as tattoo artist Alvaro Quesada tattoos breast cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, inspects the breasts of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana VeraTEMPLATE OUT
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, drives to the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, inspects the breasts of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, gets a hug from cancer survivor Mamen Malagon after tattooing a nipple on her reconstructed breast at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, tattoos a nipple on the reconstructed breast of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera TEMPLATE OUT
Tattoo artist Alvaro Quesada works on a tattoo at his tattoo parlour in Madrid, Spain, March 24, 2017. Picture taken March 24, 2017. REUTERS/Susana Vera
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, finishes tattooing a nipple on the reconstructed breast of cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera TEMPLATE OUT TPX IMAGES OF THE DAY
Tattoo artist Alvaro Quesada works on a tattoo at his tattoo parlour in Madrid, Spain, March 24, 2017. Picture taken March 24, 2017. REUTERS/Susana Vera
Cancer survivor Mamen Malagon reacts as tattoo artist Alvaro Quesada, who is blind from an eye due to a tumour, tattoos a nipple on her reconstructed breast at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017.REUTERS/Susana Vera TEMPLATE OUT
Tattoo artist Alvaro Quesada, who is blind in one eye due to a tumour, jokes with breast cancer survivor Mamen Malagon at the Hospital Universitario de Torrejon, in Torrejon de Ardoz, outside Madrid, Spain, March 23, 2017. Picture taken March 23, 2017. REUTERS/Susana Vera TEMPLATE OUT
A painting of tattoo artist Alvaro Quesada hangs from the wall next to his bag at his tattoo parlour in Madrid, Spain, March 24, 2017. Picture taken March 24, 2017. REUTERS/Susana Vera
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"It's important to test those people now," Mangione said. "We need to get the word out to primary care doctors to do this assessment and to make the referrals."

Private insurers follow task force recommendations on what preventive care to cover, some at no out-of-pocket cost under rules from former President Barack Obama's health care law. The recommendations were published in the Journal of the American Medical Association.

Cancer groups have similar recommendations for BRCA testing, and increasingly urge that the newly diagnosed be tested, too, because the inherited risk can impact choices about surgery and other treatment.

Identifying BRCA mutation carriers "can be lifesaving, and should be a part of routine medical care," Drs. Susan Domchek of the University of Pennsylvania and Mark Robson of Memorial Sloan Kettering Cancer Center, who weren't involved with the new guidelines, wrote in an editorial accompanying them.

8 PHOTOS
Celebrities who have publicly battled breast cancer
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Celebrities who have publicly battled breast cancer
Toronto, Canada - September, 17 2015 - Actress Cynthia Nixon (best known for Sex and the City) was in Toronto promoting her indie film JAMES WHITE. TIFF15, Toronto International Film Festival September 17, 2015 (Richard Lautens/Toronto Star via Getty Images)
Sheryl Crowe arrives at the 2014 Vanity Fair Oscar Party on March 2, 2014 in West Hollywood, California. (Photo credit ADRIAN SANCHEZ-GONZALEZ/AFP/Getty Images)
LOS ANGELES, CA - AUGUST 01: Christina Applegate arrives at Dizzy Feet Foundation's 5th Annual Celebration Of Dance Gala held at Club Nokia on August 1, 2015 in Los Angeles, California. (Photo by Michael Tran/FilmMagic)
Actress Maura Tierney of Showtime's 'The Affair' poses in the Getty Images Portrait Studio powered by Samsung Galaxy at the 2015 Summer TCA's at The Beverly Hilton Hotel on August 10, 2015 in Beverly Hills, California. (Photo by Maarten de Boer/Getty Images)
US actress and UNHCR ambassador Angelina Jolie stands during a visit to a camp for displaced Iraqis in Khanke, a few kilometres (miles) from the Turkish border in Iraq's Dohuk province, on January 25, 2015. Run by authorities from the three-province autonomous Kurdish region of north Iraq with the help of the United Nations refugee agency, the UNHCR, Khanke aims to house 18,000 people, said the agency's Liena Veide. AFP PHOTO/SAFIN HAMED (Photo credit should read SAFIN HAMED/AFP/Getty Images)
LOS ANGELES, CA - AUGUST 13 NBCUNIVERSAL EVENTS -- NBCUniversal Portrait Studio, August 2015 -- Pictured: TV personality Giuliana Rancic from 'Fashion Police' poses for a portrait at the NBCUniversal Summer Press Day during the 2015 Summer TCA Tour at The Beverly Hilton on August 12, 2015 in Beverly Hills, California. (Photo by: Christopher Polk/NBC/NBCU Photo Bank via Getty Images)
SIMI VALLEY, CA - JULY 05: Nancy Reagan attends The Grand Opening of D23 Presents Treasures of The Walt Disney Archives on July 5, 2012 in Simi Valley, California. (Photo by Michael Kovac/FilmMagic)
BEVERLY HILLS, CA - MAY 24: Reporter Linda Ellerbee speaks during the 36th Annual Gracie Awards Gala at the Beverly Hilton Hotel on May 24, 2011 in Beverly Hills, California. (Photo by Frederick M. Brown/Getty Images)
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But too few high-risk women ever learn if they harbor BRCA mutations, they wrote. For example, cancer groups have long recommended that all ovarian cancer patients be tested, but several studies have found testing is done in less than a third.

Don't skip the genetic counseling, said the task force's Mangione. BRCA testing can cause anxiety and sometimes gives confusing results, finding mutations that might not be dangerous — things the counselors are trained to interpret. There's a shortage of genetic counselors, particularly in rural areas, and she said counseling by phone can work.

There's a wide array of gene tests, some that search just for BRCA mutations and others that test dozens of additional genes at the same time. There's even a direct-to-consumer kit sold by 23andMe — but Domchek and Robson warned it only detects the three mutations found most in women of Ashkenazi Jewish descent, not dozens of other mutations.

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