But of the 22 women in the study who were found to carry the BRCA1 or BRCA2 breast cancer gene, less than half were eligible for genetic testing based on Ontario’s current screening guidelines, which prompted the study’s authors to recommend that all Jewish women be offered DNA testing as a matter of course.

Dr. Kelly Metcalfe, the adjunct scientist at the Women’s College Research Institute who began working on the study in 2008 with Dr. Steven Narod, said that only women with a strong family history are eligible for genetic testing under existing guidelines.

“In the past, we would only find mutations in families where there was a strong family history, but this study showed us that we picked up a lot of mutations in women without a strong family history,” Metcalfe said.

“That could have been because there were no relatives available to have developed cancer because of family members that [died] during [the Holocaust], or it could have been because it had come from the father’s side and there were no women on that side of the family to have developed cancer.”

Another concern outlined in the study that was published on Dec. 14 in the Journal of Clinical Oncology, was the fact that 10 of the 22 women in the study who were found to carry a mutation in the BRCA1 or BRCA2 genes did have a strong family history of cancer, but none of them were referred by their health-care provider for screening.

The purpose of the study – which the Women’s College Hospital Foundation extended to allow up to 5,000 more Jewish women to have the genetic screening – is to provide high-risk women with preventative care and screening that they might not otherwise have access to based on the current screening process.

The study concluded that women who possess a mutated gene have up to a 40 per cent chance of developing ovarian cancer and up to a 70 per cent chance of developing breast cancer.

Metcalfe said that about 1 in 45 Jewish women will have a mutation, compared to 1 in 250 women in the general population.

According to the study, there is an equal risk of inheriting the gene from the maternal or paternal side, but many women and their physicians underestimate the significance of a family history of breast cancer on the father’s side.  

The study referred to a recent survey that showed that only 29 per cent of 628 physicians surveyed knew that genetic susceptibility to breast cancer could be passed through the father.  

Of the 22 families with a BRCA mutation, 14 mutations were transmitted paternally, six were transmitted maternally, and for two women the mutation source could not be determined.

About 40 per cent of ovarian cancers and 12 per cent of breast cancers are the result of these mutations, and they’re potentially preventable.

“There are options that she can elect for to reduce these risks,” Metcalfe said.

“That could be preventive surgery, taking medications to reduce her risk of developing cancer or she could elect to undergo very vigilant screening. For breast cancer, she would look at having breast MRIs, clinical breast exams. For ovarian cancer, there are ultrasounds and blood tests she can take.”

Although none of the 22 women in the first part of the study who carried a mutated gene were Sephardi, both Ashkenazi and Sephardi Jews are encouraged to enrol in the second part of the study as long as they are between 20 and 70 years old, Ontario residents and have not had previous genetic testing for the BRCA1 or BRCA2 genes.

“What we ask them to do is complete several questionnaires, because it is still a research study – this isn’t being offered as a clinical service yet – so there are several questionnaires that they have to fill out and then they provide us with a saliva sample,” Metcalfe said.

Women who are found to have a mutation will be retested to confirm the positive result and will then receive personal genetic counselling and individualized cancer risk management options.

It might take up to a year to receive the results from the test.

Metcalfe anticipates that many Jewish women will want to take part in the next phase of the study. Within one day of the publication of the initial results, 1,500 women signed up for the second part of the study, which will start in March.

Metcalfe said her study group plans to make recommendations to the provincial government to make genetic screening more accessible to Jewish women.

“We’re definitely going to do a formal economic evaluation. It makes sense to us that this probably wouldn’t cost that much in terms of doing the testing as opposed to treating women for cancer eventually,” she said.

“We will… see what the government might do with it.”

To enrol in the study, contact Women’s College Hospital at 416-351-3795 or visit the website at www.womensresearch.ca/jewishstudy.