Mesothelioma BAP1 Gene Defect Traces Back to One Couple

You have mesothelioma because you were exposed to asbestos. But you needed only the tiniest exposure to trigger the cancer if your great-great-great- great-great-great-great-grandparents happened to be a particular German couple who settled in colonial America in the 1700s.

Researchers have figured out that this one husband and wife were the starting point for a hereditary defect in the BRCA1-Associated Protein 1 gene — a gene more commonly known as BAP1.

This German pair produced children who all carried the BAP1 gene defect. So did their children’s children. Now you may carry it, too, if you’re in the original couple’s bloodline.

With each new generation, the couple’s descendants grew in number. Today, if you held a family reunion for them, you might need a football stadium or two to accommodate the gathering.

You would also need to send invitations to just about every state in the union, so spread out have they become.

The BAP1 gene defect is only a concern for the descendants of this couple because it makes people who carry it unusually susceptible to mesothelioma.

BAP1 Gene Could Allow Earlier Mesothelioma Diagnosis

The researchers who traced the BAP1 defect back to its generational point of origin wrote about it not long ago in the online journal PLOS Genetics.

The title of the study was “Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.”

The researchers contended their discovery will be useful for helping identify people at extra-high risk of mesothelioma. People with the BAP1 gene defect so easily develop mesothelioma from so little asbestos exposure that they commonly have no idea that they were ever exposed.

Identifying such individuals will allow close monitoring to begin before mesothelioma has a chance to start up.

The researchers believe that monitoring will permit treatment to begin at the earliest possible stage of mesothelioma. You generally have the best chance of living a long time with mesothelioma if the cancer is detected and treated early.

Probing Mesothelioma Patients’ Ancestry

In conducting their research, the investigators screened 22 patients from across the U.S. None of these patients appeared to be related. However, all indicated that mesothelioma ran in their families.

The researchers looked deeper and noticed that in four of these families the BAP1 gene defect was a trait in common. And the defect was identical in each of the four families.

The researchers then conducted a genealogy trace on those families. They soon learned from birth records and other documents that the four seemingly unconnected families were from a single tree.

The root of that tree was the German couple from the early 1700s. An interesting find was that their traceable descendants from then until now added up to 80,000 people.

The researchers stressed that this 80,000 tally represents only those descendants that could be directly traced.

The researchers said they believed that it would be possible to “uncover additional branches of the family that may carry BAP1 mutations.”