Nov 17, 2013 - 2:12 pm
I've mentioned here before that breast cancer is pretty prevalent on my father's side of the family: Both of my father's sisters are breast cancer survivors, as well as 2 cousins and even a great-grandfather. We've all tested negative for the BRCA1 and 2 mutations.
Last year, my family was asked to participate in a University of Washington study of BRCA-negative families like ours, and we all submitted blood samples.
On Friday, the researcher called to let me know what they've found: We all carry a mutation of a gene called PALB2. Stands for "Partner And Localizer of BRCA2." Even though we do NOT have the BRCA2 mutation, PALB2 is apparently a "partner in crime" with our (perfectly normal) BRCA2 genes, and is believed to increase breast cancer risk by 2-3 times. They can even pinpoint that the gene was introduced into our family by one of my father's parents.
(I had to laugh when the researcher described the PALB2 mutation as the gene being shorter than it's supposed to be -- everyone on my father's side of the family is short, so now we know why -- we have shrimpy little genes! :-)
Researchers are looking at connections between PALB2 and both pancreatic cancer and ovarian cancer, so that's a little scary, but they have no definitive data yet, and we have NO incidents of these cancers in my family. The researcher will be sending me all the results and do***entation in the mail, and this will be Discussion Topic #1 when I see my oncologist next month, and I'll be very interested to hear if this changes any of his treatment recommendations for me.
For now...just wow. It's strange and cool and a little overwhelming to finally be able to put a name to why I got breast cancer.