August 7, 2014

New breast cancer gene

The Herald has a pretty good story about a gene, PALB2, where there are mutations that cause a substantially raised risk of breast cancer.  It’s not as novel as the story implies (the first sentence of the abstract is “Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer.”), but the quantified increase in risk is new and potentially a useful thing to know.

Genetic testing for BRCA mutations is funded in NZ for people with a sufficiently strong family history, but the policy is to test one of the affected relatives first. This new gene demonstrates why.

If you had a high-risk family history of breast cancer, and tested negative for BRCA1 and BRCA2 mutations, you might assume you had missed out on the bad gene. It’s possible, though, that your family’s risk was due to some other mutation — in PALB2, or in another undiscovered gene — and in that case the negative test didn’t actually tell you anything. By testing a family member  first, you can be sure you are looking in the right place for your risks, rather than just in the place that’s easiest to test.


Thomas Lumley (@tslumley) is Professor of Biostatistics at the University of Auckland. His research interests include semiparametric models, survey sampling, statistical computing, foundations of statistics, and whatever methodological problems his medical collaborators come up with. He also blogs at Biased and Inefficient See all posts by Thomas Lumley »