London, Mar 24 (ANI): For the first time, US scientists have mapped the full genetic blueprint of 'multiple myeloma', a form of blood cancer.
The study from 38 cancer samples might now offer clues to what causes the disease and may lead to new treatments.
The emerging genome-wide picture of multiple myeloma reveals genes never before associated with cancer as well as multiple genetic mutations that disrupt just a handful of common pathways, or chains of chemical reactions that trigger a change in a cell.
Individually, each of these mutations is fairly uncommon and might have remained undiscovered had the researchers not looked at such a large collection of samples.
Never before have scientists taken an in-depth look at so many multiple myeloma samples.
Co-senior author Todd Golub, director of the Broad's Cancer Program, and Charles A. Dana, investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute, studied 38 multiple myeloma patients, comparing the patients' normal genomes to the genomes from their malignant cells.
They found sets of mutations affecting many genes in the same pathways, including the NF-B pathway.
If this pathway is turned on at the wrong time, it can activate genes that allow a cancer cell to grow and divide unchecked.
Previously, multiple myeloma researchers had suspected that this pathway was involved in the cancer's development, but it was unclear exactly what events were turning this pathway on.
In this latest study, the researchers discovered 11 different genes involved in this pathway that were altered in at least one multiple myeloma sample.
Additionally, the study has brought to light new mutations affecting genes that had never previously been tied to cancer.
"These genes, which are frequently mutated, were not on anyone's radar before when thinking about multiple myeloma specifically or cancer in general," said Golub.
"This shows that there are entirely new cancer-causing genes that are going to be discovered through these sequencing efforts," he added.
In half of the study's patients, the researchers found mutations in genes that control two fundamental cellular processes: how RNA is processed and proteins are folded.
Two of these genes, DIS3 and FAM46C, appeared to play important roles in the stability of RNA and hence its translation into protein.
The researchers also found genes involved in blood clotting mutated in multiple myeloma patients, a new and surprising discovery.
The study is detailed in the March 24 issue of Nature. (ANI)
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