A breast cancer survivor and her family at a 2016 Komen Race for the Cure. Photo: Mindy Schauer/Digital First Media/Orange County Register via Getty Images

In an effort to clear up uncertain breast cancer diagnoses involving mutations of a key gene, known as BRCA1, a team of scientists have used gene editing technology to create and analyze thousands of variations to help determine which are benign or not, per a new study published in Nature on Wednesday.

Why it matters: There's been a lot of research on BRCA1 gene mutations, which are associated with breast and ovarian cancers, but the threat posed by each variant is not always known. This leads to confusion for patients regarding if they should take serious prophylactic measures such as a double mastectomy and/or removal of ovaries to prevent cancer, as actress Angelina Jolie did when she found she had the mutation.

Background: The BRCA1 gene is believed to repair damaged DNA and trigger proteins that act as tumor suppressors. Any mutation in this gene is cause for worry — often, but not always, it indicates a predisposition to early-onset breast and ovarian cancer. The mutations can be genetically inherited.

  • While genetic testing for the BRCA1 variants has been around for years, there's a range of diagnoses, including what's called a "variant of uncertain significance" (VUS), which has a frustratingly unclear prognosis.
"It turns out we can read it, but we don't understand it" after 22 years of sequencing.
— Study co-author Lea Starita, co-director, Brotman Baty Advanced Technology Lab

What they did: The University of Washington researchers used CRISPR gene editing technology to cause 3,893 mutations in part of the BRCA1 gene (mimicking the variant of uncertain significance) and then analyzed how cells responded (either causing disease or staying benign). They then posted these findings for further research and possible clinical use.

"This is a step closer to reaching the goal of precision medicine."
— Lea Starita

While the study authors say the "results will be immediately useful for the clinical interpretation of BRCA1 variants," the National Cancer Institutes' Stephen J. Chanock, who wrote a News and Views piece on the new research in Nature, tells Axios that more evidence-based research is needed to make sure the classifications make sense before it is used in a clinical setting.

"The question is, are we ready to take a single, in vitro test and... [use it] to recommend substantially body-altering surgery?"
— Stephen J. Chanock, National Cancer Institute

"This is an important step toward that, but it doesn't answer it," he said.

What's next: Starita says they hope to continue the same process with the remainder of the BCRA1 gene variants.

Go deeper: Read more on breast cancer treatments and precision medicine.

Go deeper

The positions of key GOP senators on replacing Ruth Bader Ginsburg

Senate Majority Leader Mitch McConnell talks to reporters on Capitol Hill last Thursday. Photo: Chip Somodevilla/Getty Images

With President Trump planning to nominate his third Supreme Court justice nominee by next week, key Republican senators are indicating their stance on replacing the late Justice Ruth Bader Ginsburg just over six weeks out from Election Day.

The big picture: Senate Majority Leader Mitch McConnell (Ky.) has vowed that "Trump’s nominee will receive a vote on the floor of the United States Senate." But Sen. Lisa Murkowski (Alaska) told Alaska Public Media, "I would not vote to confirm a Supreme Court nominee. We are 50 some days away from an election."

Updated 21 mins ago - Politics & Policy

ActBlue collects a record $91 million in hours after Ginsburg's death

A makeshift memorial in honor of Justice Ruth Bader Ginsburg in front of the U.S. Supreme Court on Sept. 19. Photo: Samuel Corum/Getty Images

ActBlue received a record $91.4 million in the 28 hours following Supreme Court Justice Ruth Bader Ginsburg's death, the Democratic donation-processing site confirmed to Axios late Saturday.

Why it matters via the New York Times: "The unprecedented outpouring shows the power of a looming Supreme Court confirmation fight to motivate Democratic donors."

Updated 3 hours ago - Politics & Policy

Coronavirus dashboard

Illustration: Sarah Grillo/Axios

  1. Global: Total confirmed cases as of 11:30 p.m. ET: 30,674,077 — Total deaths: 955,440— Total recoveries: 20,908,811Map.
  2. U.S.: Total confirmed cases as of 11:30 p.m. ET: 6,764,803 — Total deaths: 199,258 — Total recoveries: 2,577,446 — Total tests: 94,211,463Map.
  3. Politics: In reversal, CDC again recommends coronavirus testing for asymptomatic people.
  4. Health: The dwindling chances of eliminating COVID-19.
  5. World: Guatemalan president tests positive for COVID-19 — The countries painting their pandemic recoveries green.