A brief review of the BAP1 “meso gene” discovery story is provided – with links to key articles – in the April 1, 2016 issue of the Scientist. The overall effort as to BAP1 and mesothelioma has resulted in backwards looking genetic investigation stretching back for centuries, as described in the excerpts below. The entire story is well worth reading. While reading, keep in mind that the BAP1 gene can be mutated in multiple different ways.
“Out of the 22 patients who met the study criteria, three—presumably unrelated individuals in Maryland, California, and Texas—had the same BAP1 mutation: a deletion that results in a truncated protein. Another patient identified in a previous study (also from Texas) carried the mutation as well.
To learn whether the four might actually be related, and if so, how, the researchers enlisted the help of a professional genealogist, Harriet “Hart” Hoffman. She was able to show that the four study participants all descended from a German couple that had immigrated to Virginia in the early 1700s and had had 10 children. Based on the pattern of cancer development within the pedigree, two of those children passed down the BAP1 mutation that, centuries later, was detected in the study participants, who are now seven and eight generations removed from the German pair.
The researchers do not know whether it was the man or the woman in the German couple who had theBAP1 mutation. They did, however, track the man’s ancestry back four more generations, to Switzerland. The scientific gumshoes even located the original house that the Swiss ancestors had lived in almost 500 years ago—and when they visited, found that descendants of the same family were still living there. “Only in Europe you can find that people still live [in] exactly the same place,” says Carbone. Now the researchers would like to test the Swiss family members for the BAP1 mutation.”
A big picture take away? New tools are and new methods for analysis are creating major new developments, faster and faster.