Discoverer of gene mutation: women over 30 should undergo home saliva test

King, a pioneer in the field of medical genetics, will receive the Dan David International Prize for her “outstanding contribution to humanity” in Tel Aviv in May.

March 28, 2018 20:13
2 minute read.
Color's breast and ovarian cancer DNA test

Color's breast and ovarian cancer DNA test. (photo credit: Courtesy)


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Prof. Mary-Claire King, the esteemed University of Washington cancer geneticist who in 1990 demonstrated that a single gene on chromosome 17 was responsible for many breast and ovarian cancers, recommends that every woman over 30 consider using a saliva-based home test to see if she carries the gene.

The Oragene.dx test was developed by the Color Genomics company. After a swab with saliva from the mouth is taken, it is sent to the company’s labs, which not only identify the BRCA1 gene mutations that King discovered but also find other gene mutations, contributing to understanding the risks of breast and ovarian cancer, the company said.

King, a pioneer in the field of medical genetics, will receive the Dan David International Prize for her “outstanding contribution to humanity” in Tel Aviv in May.

While everyone’s DNA has a BRCA1 and BRCA2 gene, a mutation of the genes can increase the risk of cancer by between 10% and 80%.

The risk is higher among Ashkenazi women, but the mutation occurs less often in Jewish women of other ethnic backgrounds and in non-Jewish women as well.

King, who regularly collaborates with Israeli geneticists and visits this country often, serves as an unpaid consultant to Color Genomics. The test can be ordered from the company’s website and from Amazon.

The company says that the home test has been proven highly accurate, and that it identified the harmful mutations in every single case. It even found a mutation that, when the test was conducted, had not been linked to raising the risk of breast cancer but only later was found to do this, said King.

If the test is found positive for heritable cancers, the company’s genetics counselors make contact with the woman, go over the result and explain what can be done next.

“It is important for the subjects to understand the options available to them. It is quite possible that they will not get cancer in the future, but if the risk is high, they [should get a] recommendation for preventive activities to lower their risk. I definitely think that women over the age of 30 should consider such tests,” said King.

“One of the common mistakes,” she said, “is that only women with a family background of breast cancer should worry. [This is a mistake] since mutations can be detected even without a family history.”

Asked to comment, Health Ministry director-general Prof. Itamar Grotto said a home test should not be used without professional and personal genetic counseling

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