JOIN USAn international team of researchers found mutations in a gene, called GATA2, which among other roles, controls the process that changes primitive blood-forming cells into white blood cells.
The findings, published in the journal Nature Genetics, could lead to a genetic test allowing people with a family history of leukaemia to find out if they carry the faulty gene before their symptoms emerge, the researchers said.
"While several genes have been discovered and linked to solid, malignant tumours such as breast cancer in families susceptible to those types of cancer, so far very few inherited mutations have been uncovered for blood cancers," said Dr Marshall Horwitz, of the University of Washington and lead researcher of the study.
The researchers started by studying four families who, over generations, have had several relatives with acute myeloid leukaemia. Their disease onset occurred from the teens to the early 40s.
The genetic mutation was first discovered in a patient from central Washington who was treated for leukaemia in 1992. At that time, Horwitz decided to seek a possible genetic reason after learning his patient had several family members with myelodysplastic syndrome, myeloid leukaemia and intractable mycobacteria infections.
Myelodysplastic syndrome is a difficulty in producing certain kinds of blood cells. After 18 years of research, the team finally hit upon the mutated gene responsible for the leukaemia that affect these families. They have gone on to identify abnormal GATA2 genes in more than 20 families and individuals.