For years, Makiko Dazai had nagging questions about her sister’s death from ovarian cancer in 2008.

Dazai, a 46-year-old housewife from Kiyose, western Tokyo, said her sister had been taking great care of herself, eating healthily and undergoing regular health checkups. She was diagnosed with ovarian cancer in 2004.

“My sister would choose to eat low-pesticide vegetables and brown rice,” Dazai recalled of her sister, who was a year older than herself. “She would only drink a little occasionally and didn’t smoke. If she had developed cancer because of her lifestyle, I thought everyone would.”

Back then, few people in Japan, except for a small group of experts in the field, were aware of hereditary breast and ovarian cancer (HBOC), which is caused by mutations of certain genes, including those known as BRCA1 and BRCA2.

According to the U.S. National Cancer Institute, the risk of breast cancer in people with mutations in either BRCA1 or BRCA2 is five times higher than normal. The risk of ovarian cancer for such people is believed to be even higher, about 10 to 30 times the average.

Dazai was one of those who had never heard of HBOC, but when a 5 mm tumor was discovered in her left breast in 2011, she immediately suspected a genetic link. She sought out a specialist at Cancer Institute Hospital in Ariake, Tokyo and took a BRCA test there. The test confirmed she carries a mutation in the BRCA1 gene. Her sister, on the other hand, never had a chance to take such a test so the cause of her ovarian cancer remains unknown.

“When I tested positive, I felt relieved,” said Dazai, who has had her left breast removed. “I felt I found an answer I had been searching for. My cancer had genetic, not environmental, roots.”

Dazai is one of the lucky ones. Many women remain unaware of their genetic risks, experts say, even though 5 to 10 percent of the 73,000 newly diagnosed breast cancers in Japan every year are believed to be the hereditary type.

In the last few years, awareness has rapidly grown, thanks in part to the “Angelina Jolie effect.”

The U.S. actress caused a sensation worldwide in 2013 when she announced that she underwent a double mastectomy to avoid the risk of breast cancer. Jolie, too, has a BRCA1 mutation. In March, she announced she had also had her ovaries and fallopian tubes removed to avoid the risk of ovarian cancer.

“Angelina Jolie had a profound impact on Japan’s approach to HBOC,” said Dr. Seigo Nakamura, head of Showa University Hospital Breast Center in Tokyo and the nation’s foremost authority on breast cancer research.

Jolie’s announcement in 2013 happened to come right after Nakamura presented the results of a two-year study in Japan on hereditary breast cancer at an international conference.

“It was really a watershed moment, in that it helped raise the awareness in the government and even among breast cancer specialists,” he said of Jolie’s move.

But there is still a long way to go. The genetic screening for HBOC is not covered by Japan’s public health insurance scheme, meaning people taking the test must pay the cost in full — between ¥200,000 and ¥300,000. Preventive breast removal, which costs between ¥700,000 and ¥1 million, is also not covered by public insurance.

Nakamura said he has been lobbying the government to subsidize at least part of the costs by including the procedures as part of the senshin iryo (advanced medical care) scheme, which would help reduce the financial burden on patients by around 40 percent.

To qualify for government support doctors must prove that the procedures help to reduce patient mortality. As it is, there is insufficient epidemiological data on Japanese patients, Nakamura said.

“In the West, there is enough data on the link between preventive removals of breasts and ovaries (to link them to reduced mortality), so we said we want the procedures to be covered by the advance care scheme,” he said. “But the stance of the health ministry officials is that they need to see the data of Japanese patients, because environmental factors vary in Japan and the West.”

As such, many doctors are using research grants or volunteering their time to help reduce the costs for patients.

Educating doctors about HBOC is another pressing issue. The nonprofit Japanese HBOC Consortium, which Nakamura cofounded in 2012 and whose membership includes breast cancer surgeons, gynecologists, clinical geneticists and genetic counselors, has conducted educational seminars for doctors.

“Every year 80,000 people are diagnosed with breast cancer,” Nakamura said. “Of them, 25 percent, or 20,000, could be hereditary types and need to undergo genetic tests. After the tests, 30 percent, or 6,000, are confirmed as having gene mutations. … But to pick up those 6,000, we need to have a system where all of the 20,000 are tested.”

“All breast cancer doctors, even if they are not HBOC specialists, need to be able to detect high-risk patients and present the best screening option for each,” he added.

Nakamura said there are cases where mammography misses small tumors in people with “dense” breasts, meaning breasts with leaner, less-fatty tissues. Experts are currently debating the use of ultrasound and MRI tests with and without mammography, he said.

To promote further awareness of HBOC and provide peer counseling, Dazai set up Clavis Arcus, a support group for HBOC patients and their families, in 2014. Above all, she wants to destigmatize the hereditary diseases, she said.

Most of the group’s 20 or so members wish to remain anonymous when they speak about their experience in public or to the media, for fear of discrimination. And that’s understandable, considering that unlike the U.S., Japan lacks laws banning discrimination in employment and health insurance based on genetic information.

In the absence of legal protection, Dazai said her doctor for years urged her not to reveal her real name or have her picture taken when sharing her experience on breast cancer in public.

She decided to go public in January, using her real name at a medical conference attended only by doctors. For her, doing so was extremely important, to gain the trust of other patients in the same plight and share experiences with them.

“I wanted to tell the world that it’s not just Angie who has it,” Dazai said. “If the day comes when patients can talk about their cancers freely without hesitation, and if genetic tests become easily available, more people like my sister might be saved.”

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