An international team of scientists has achieved a breakthrough by finding the genetic cause of a very rare and aggressive type of ovarian cancer that most often strikes girls and young women.
The study, led by Translational Genomics Research Institute (TGen) a non-profit organization based in Phoenix, AZ, is published in the journal Nature Genetics.
The researchers say their finding, discovered by groundbreaking work in genomics, reveals many strong links between a mutation in a gene called SMARCA4 and an overwhelming majority of patients with a rare and aggressive form of ovarian cancer known as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
The researchers write:
"We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis."
Dr. Jeffrey Trent, president and research director of TGen and senior author of the study, explains why their findings are so remarkable:
"Many genetic anomalies can be like a one-lane road to cancer; difficult to negotiate. But these findings indicate a genetic superhighway that leads right to this highly aggressive disease. The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."
Ovarian cancer is the fifth leading cause of cancer death among American women. Like many other ovarian cancer types, SCCOHT is often not diagnosed until it is already in an advanced stage. Chemotherapy evokes no response and nearly two thirds of patients do not survive more than 2 years after diagnosis.
The average age at which SCCOHT strikes is 24 years, ranging from baby girls as young as 14 months to women aged 58. The youngest patient in this study was 9 years old.
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