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How many BRCA mutations have been positively identified as causing cancer? And, how many more are "left" to look at? I have "unknown" mutations on both.

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And, how many more are "left" to look at? I have "unknown" mutations on both.

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Topics (Tags):

BRCA-1 Genetics BRCA Mutations BRCA-2 Genetic Mutations Myriad

Topics:

BRCA-1 X Genetics X BRCA Mutations X BRCA-2 X Genetic Mutations X Myriad X

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Diseases:

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Answers (1)

DrAttai (Physician - Surgery - Breast (Verified) ) - 08 / 26 / 2011

Myriad Genetics (http://www.myriad.com/) has had BRCA 1 and 2 testing available since 1996. Currently there are over 2000 variations in BRCA 1 and 2 genes that have been shown to be "deleterious" mutations, in that they are responsible for an increased risk in breast and ovarian cancer. New deleterious mutations are being discovered and confirmed with some regularity.

At this point, approximately 5% of mutations identified are labeled "mutations of undetermined significance" - this means that there is a gene abnormality, but there is not enough data to know if the mutation is a harmful one or not - realize that many gene mutations do not confer an increased risk. According to one of the researchers at Myriad, when they first started testing in 1996, "15 to 40% of the people getting tested had a variant of uncertain significance. That is now under 5%, because we have made enormous progress in our ability to study variants and figure out if they cause an increased risk for cancer. But there are still a lot of variants for which we need more information".

At this point, approximately 5% of mutations identified are labeled "mutations of undetermined significance" - this means that there is a gene abnormality, but there is not enough data to know if the mutation is a harmful one or not - realize that many gene mutations do not confer an increased risk. According to one of the researchers at Myriad, when they first started testing in 1996, "15 to 40% of the people getting tested had a variant of uncertain significance.  That is now under 5%, because we have made enormous progress in our ability to study variants and figure out if they cause an increased risk for cancer.  But there are still a lot of variants for which we need more information".

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3 Replies

I was tested for BRCA mutations in 2005 and did not have any. If I were to get re-tested today, is it possible that we might find mutations given the advances in research since 2005?

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member817
- 10/18/2011

It is possible - I would suggest contacting Myriad Genetics through their website (listed above) / customer service and they might be able to make some suggestions based on your prior testing.

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DrAttai
- 10/18/2011

Myriad does keep the blood. They have some sort of rearranging sequencing that was done with mine after my initial test. We can talk later...... running for my oncology appt now!

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member4039
- 10/18/2011

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Latest Activity: 10 / 18 / 2011
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