last updated April 2013
Characterizing a unique gut disease
A rare, heritable illness of stomach polyps and gastric cancer affects families in Australia, North America and Japan
In 2003, a 33-year-old mother of two attended a hospital in Adelaide, Australia, complaining of black, tarry stool. In an internal examination of the woman’s digestive tract, doctors noticed an abundance of small growths known as polyps carpeting the left portion of her stomach lining. Follow-up tests with the woman’s extended family revealed the same problem in nearly all her kin; two of her relatives also developed, and later died from, stomach cancer.
The same disease was subsequently identified in a family in the United States and one in Canada. All sufferers displayed the same autosomal dominant mode of inheritance. A team led by Graeme Suthers, head of the familial cancer unit at the Women’s and Children’s Hospital in North Adelaide, describes the three families and the new syndrome — dubbed ‘gastric adenocarcinoma and proximal polyposis of the stomach’, or GAPPS — in the journal Gut1. An independent group at Kyushu University has since found two other cases in Japan2.
“This disorder can lead to gastric cancer and kill you,” says Suthers, who is now investigating other suspected cases of GAPPS. “This has implications for advising family members about their risk of disease, and for casting possibly new light on the genes that underlie gastric cancer.”