Women with a family history of early onset ovarian cancer can now receive genetic screening thanks to a discovery made by a team at the Jewish General Hospital (JGH).

A team led by Dr. William Foulkes of the Lady Davis Institute (LDI) at JGH has identified a mutation in the chromatin-remodelling gene SMARCA4 in small cell carcinoma of the ovary, stuff hypercalcaemic type (SCCOHT).

“Though the mutation is rare, this is a devastating cancer that emerges in young women and will kill about half of those who get it within five years…. The average age of victims is 25, with some as young as 2,” said Foulkes, who heads the Cancer Genetics Laboratory at the LDI and McGill University’s Program in Cancer Genetics.

“By identifying a specific genetic factor, we finally have the prospect for early genetic counselling for women with a family history of the disease in order to determine the presence of the mutation before the disease emerges and it opens opportunities for new approaches to treatment.”

The study also found that SCCOHT should be classified as a malignant rhabdoid tumour, a type of growth usually seen in the brain; as a result, pathologists can now diagnose it by using a simple antibody test.

The study involved collaboration with clinician-scientists across Canada and in Australia, Germany, France, Greece, Slovenia, the US and the UK, with support from McGill University and Genome Quebec Innovation Centre. The findings have been published this month in Nature Genetics.

By The Jewish Tribune

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