An international collaboration of scientists has discovered the genetic mutation, which leads to acute myeloid leukemia, and myelodysplasia.
The mutations were found in the GATA2 gene. The researchers observed that these mutations relate to loss of function by making the gene unable to perform the molecular duties necessary to manufacture healthy white blood cells.
The researchers studied four unrelated families from Australia, Canada, and the United States, who over generations, have had several relatives with acute myeloid leukaemia.
In some families with a GATA2 mutation, the over-riding concern has been leukaemia, while others suffer dangerous infections from bacteria, viruses and fungi because of a lack of white blood cells to fight off germs.
"While several genes have been discovered and linked to solid, malignant tumors 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, the conductor of the research's US portion and professor of pathology in University of Washington (UW).
The findings will be published in the September issue of Nature Genetics.