Friday, June 14, 2013

Variant of Uncertain Significance

Mom received her genetic test results on Monday. Overall the news was good in that she didn't have the mutations on the BRCA1 and BRCA2 that are known to be responsible for a significant hereditary risk in breast and ovarian cancer. There was a mark on the BRCA 2 gene that they wouldn't classify as a mutation... they called it a "variant of uncertain significance" meaning that they wouldn't go as far to say it was a mutated part of the gene that was associated with a high risk of cancer. The counselor said that the variant increased the cancer risk by probably 10%... as opposed to 80% if there was an actual mutant gene classification.

The genetic counselor did have some demographic information about the variant. Most of the women who share this "variant of uncertain significance" on that portion of the BRCA 2 gene are from western european nations (we are of german/irish heritage) and there was a large chunk of Ashkenazi Jewish women who were in that data. The only reason why I bring up the Ashkenazi point is because women of Ashkenazi Jewish decent have a higher rate of ovarian cancer. So if that BRCA 2 variant is also shared by that sector of women then I have to think the risk is higher.

The counselor was very cautious about saying anything about high risk... as there is no data to support it. She said that if there is a rise in the number of people who have this BRCA 2 variant then they could reclassify it as a mutation and therefore put it in a higher category for cancer risk.

Of larger significance is the recent ruling by the Supreme Court that genes cannot be patented. At the heart of the issue was Myriad Genetic Testing (the same company that tested mom's genetic material) of the BRCA1 and BRCA2 genes. To my understanding Myriad had a patent on BRCA1 and BRCA2 genes, thus a monopoly on testing. No one really knew or was allowed to research the gene complexities and variants and therefore no one really knows the implications of the disease that lurks in their DNA. Maybe with the ruling more companies can do research on the BRCA gene and find out if certain variants are known to be at a higher risk.

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