Using mummy, Israeli researchers find pre-modern genetic predisposition to cancer

Tel Aviv University researchers identify defective gene linked to colon cancer in an 18th-century Hungarian mummy.

One of the mummies found it the Vác Mummy Collection Courtesy of Dr. Ildiko Pap, Department of Anthropology, Hungarian Natural History Museum, Budapest  (photo credit: TEL AVIV UNIVERSITY)
One of the mummies found it the Vác Mummy Collection Courtesy of Dr. Ildiko Pap, Department of Anthropology, Hungarian Natural History Museum, Budapest
(photo credit: TEL AVIV UNIVERSITY)
A defective gene linked to colon cancer has been identified in an 18th-century Hungarian mummy by researchers at Tel Aviv University’s Sackler Faculty of Medicine -- proving that malignancies are not diseases only of the modern era with its obesity, lack of physical inactivity, processed food and other plagues of the 20th and 21st centuries. The research by Dr. Rina Rosin-Arbesfeld, Dr. Ella Sklan, Prof. Israel Hershkovitz and Michal Feldman have just been published in the Journal PLoS One .
 
The researchers suggest that a genetic predisposition to colorectal cancer preceded the advent of modernization. In 1995, more than 265 mummies were excavated from sealed crypts in the Dominican church in Vác, Hungary. These crypts were used continuously from 1731 to 1838 for the burial of middle-class families and clerics and provided ideal conditions for the natural mummification of corpses -- low temperatures, constant ventilation and low humidity. Some 70 percent of the  bodies found had been completely or partially mummified.
 
The preservation of the tissue samples and abundant archival information about the individuals buried in the crypts attracted researchers from around the world, all of whom where interested in conducting their own morphological and genetic studies of the human remains.
 
“Colorectal cancer is among the most common health hazards of modern times,” Rosin-Arbesfeld explained. “And it has a proven genetic background. We wanted to discover whether people in the past carried the APC mutation -- how common it was and whether it was the same mutation known today -- in other words: Is the increase in the incidence of cancer the result of man’s manipulation of nature alone?
 
“After hearing that tuberculosis had been discovered in the corpses, I was interested in seeking out a number of gene mutations known to be associated with colorectal cancer,” Rosin-Arbsefeld said.
 
The researchers used genetic sequencing to identify mutations in APC genes that were isolated from the mummies. “Mummified soft tissue opens up a new area of investigation,” Hershkovitz said. “Very few diseases attack the skeleton, but soft tissue carries evidence of disease. It presents an ideal opportunity to carry out a detailed genetic analysis and test for a wide variety of pathogens.”
 
“Our data reveal that one of the mummies may have had a cancer mutation. This means that a genetic predisposition to cancer may have already existed in the pre-modern era,” Sklan said. “But we’ve found this mutation in only one individual so far. Additional studies with a larger sample size should be conducted in order to draw more meaningful conclusions.”
The researchers are currently establishing a specialized lab at TAU for ancient DNA research.