Kate Drabinski was hardly a stranger to breast cancer. Two of her aunts and her mother had all gone through it. Still, “nobody ever suggested genetic testing,” said the 46-year-old gender and women’s studies teacher from Baltimore, Maryland.
Her primary care doctor did suggest regular mammograms, though, so she began getting them at age 37. Five years later, when she was diagnosed with breast cancer, a surgeon finally ordered genetic testing. But instead of waiting for results, he performed her scheduled lumpectomy. Weeks later, she learned her cancer was the result of a genetic mutation.
“I got my test results while walking around a Costco,” she said. “The nurse told me I was negative for BRCA — the only mutation I’d heard of — but was positive for CHEK2. I asked her what I was supposed to do with the information and she said, ‘It might affect your surgery decision. You may want to consider mastectomy.’”
Their names can often sound like gobbledygook — CHEK2, BAP1, TP53, ATM, PALB2 — but they’re the makings of what you might call the world’s worst bingo game, at least if you happen to be holding the letters and numbers of a harmful germline (or inherited) genetic variant associated with cancer.
Many people know that certain variants (or mutations) in the DNA-repair genes BRCA1 and BRCA2 can drive breast and ovarian cancers. But these two genes — which we all have — can contribute to other tumor types, as well. Genes have jobs, and some of them have incredibly important jobs, like suppressing tumors. When they become mutated and can’t do that job as well, cancers arise.
