The Neurologist Who Figured Out Familial Breast Cancer

This is what metastic breast cancer looks like. (Flickr/euthman)

There’s a spot in the human brain named for Pierre Paul Broca, and if you’re reading this post out loud, you’re using it. Discovered by the French neurologist in 1861, Broca’s area is a cluster of neurons responsible for speech formation. Then, in 1866, Broca described familial breast cancer for the first time in medical history based on 10 cases of breast cancer that occurred across four generations of his wife’s family.

Considering how common-knowledge inherited cancer risks have become, highlighted in recent months by the the high-profile news of Angelina Jolie’s preventative double mastectomy, the possibility of cancers running in a family might seem like a no-brainer. But when Pioneering geneticist Mary-Claire King had a hunch that Broca was right about the familial link and began investigating in it earnest with only modest financial support from the National Institutes of Health, she was reportedly told that it was nonsense and that breast cancer risk being tied to a single genetic mutation was a laughable idea.

In 1994, King discovered the connection between BRCA 1 and 2 gene mutations and breast and ovarian cancer risk and wanted to name the genes after Broca, but she said she was allowed only four letters to identify the gene, hence the shortened, vanity license plate-style BRCA. Most recently, King and colleagues have begun looking into the data Broca collected on those inherited breast cancer cases to see if any of the women would’ve had the BRCA 1 or 2 mutations. She’s also working on completing a multi-gene panel test to assess cancer risk, which she’s calling BROCA, naturally.