Researchers Discover Genetic Mutation Behind Rare Ovarian cancer

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Researchers discover an unmistakable link between Small Cell Carcinoma of the ovary and a mutation of the SMARCA4 gene

Small cell carcinoma of the ovary (hypercalcemic type), or SCCOHT, is a rare form of ovarian cancer that has been known to affect girls as young as 14 months, women as old as 58 years, with the average age of patents just 24 years old.

With symptoms ranging from fatigue and indigestion, to difficulty eating and abdominal pain, SCCOHT is often left undiagnosed until it has reached advanced stages of growth. SCCHOT does not respond to standard chemotherapy , and 65% of patients die within 2 years.

But a breakthrough has been made in understanding this aggressive cancer. Researchers lead by a team from TGen have identified what it calls a ‘genetic superhighway’ mutation. TGen found that the overwhelming majority of patients with SCCOHT possessed a mutation in the SMARCA4 gene, stating that “The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable.”

The identification of this gene, shared so widely between the patient population, presents new possibilities for the diagnosis and treatment of SCCOHT. With diagnosis usual taking occurring once the cancer has reached its advanced stages, there now exists the possibility to develop diagnostic tests looking specifically for the loss of protein expression by the SMARCA4 gene. Whilst early diagnosis will increase the options available from traditional cancer medicines for patients, the identification of this gene will give developers a greater idea of how this deadly cancer can be combated.

Whilst SCCOHT is a very rare form of cancer, the gene SMARCA4 has been linked with lung, brain and pancreatic cancers, and could well represent a step in the right direction towards creating more effective treatments for these cancers as well. In an age where personalised medicines are growing in popularity, as well as cost, this represents an opportunity to develop broad yet effective treatments.

“We set out to uncover any small sliver of hope for women afflicted with this rare cancer. What we found instead are the nearly universal underpinnings of SCCOHT,” Pilar Ramos, a TGen Research Associate

TGen researchers were assisted by professionals from the Mayo Clinic, Johns Hopkins University, St. Joseph’s Hospital and Medical Center; Evergreen Hematology and Oncology, Children’s Hospital of Alabama, the Autonomous University of Barcelona, British Columbia Cancer Agency, University of British Columbia, and the University Health Network-Toronto.

Find the paper here. See the TGen press release here.

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