Medical genetics

The study find that the medical science links certain genetic mutations with a greater variety of cancers, the names for these risk syndromes are falling out of step. It’s more than just a name. These outdated designations could keep the tests from being offered to many people and families whose health is at stake and who; based on the results, might benefit from preventive measures or more effective treatment. The problem is address in a commentary in the July 3 edition of the scientific journal Nature. Here is the opinion piece.

Certain genetic mutations

The author is Dr. Colin C. Pritchard, associate professor of laboratory medicine at the University of Washington School of Medicine and head of precision diagnostics at the Brotman Baty Institute for Precision Medicine in Seattle. He explain that a name like “hereditary breast and ovarian cancer syndrome” incorrectly suggests that only female organs are affect. In fact; all sexes and gender identities can be affect by harmful BRCA1 and BRAC2 mutations.

An estimated 19 million people worldwide carry mutations in these genes. Depending on the population, between 1 in 40 and 1 in 400 people have such a mutation. Harmful mutations in BRCA1 and BRCA2 do encode for proteins associated with susceptibility to breast cancer and ovarian cancer; Pritchard said. What many people don’t realize is that mutations in these genes can also predispose people to lethal prostate cancer; pancreatic cancer and some forms of leukemia.

Lethal prostate cancer

However, even when BRCA1 or BRCA2 gene mutations are discover in a woman, her male relatives might not have the test recommended to them. Guidelines for prostate cancer, for example, have only recently been update to recommend BRCA1 and BRCA2 screening. “Testing is still not being done for the right people at the right time,” Pritchard says. A study of a survey sample of 34,000 responders in the United States find that women are over 10 times more likely than men to be test for BRCA1 and BRCA2 mutations.

Yet all sexes have the same mutation rate and the same chances of passing the mutation to their children. Even when people are tested, Pritchard noted, they might not realize what the results mean for themselves or their family members. Part of this misunderstanding comes from the mistake belief that the mutation is passed only from mothers to their daughters. Men who are diagnosed with the syndrome sometimes hide the information from their family out of fear of stigmatization.

Effective treatment options

Yet that information might help protect lives. A man with late-stage prostate cancer, for instance, who knows that his sister has a BRCA1 mutation, might find that knowing he, too, has the same mutation, could open up more effective treatment options. His sons and daughters told that it is possible to inherit the mutation from their father, and be test accordingly.