Ambry Genetics: BRCA and Beyond Genetic Testing Panel Overview
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Ambry Genetics: BRCA and Beyond Genetic Testing Panel Overview



breast cancer is the most common cancer that affects women it affects approximately one in eight women for the vast majority of those women no one is ever able to actually provide them with an answer as to why they developed their cancer most of the time we're able to look towards some of the common risk factors some combination of lifestyle environment family history and point to those as possible reasons why their tumors developed but it's very rare to be able to actually provide a patient with an answer in about five percent of the cases however we are able to pinpoint a specific cause a genetic cause of mutation so geneticist have been studying hereditary breast cancer for a long time and trying to uncover the genes that underlie red eteri breast cancer and the two most common ones are brca1 and 2 which probably account for about half of hereditary breast cancer and then there's a number of other genes that account for portions of the rest and most of the other genes individually account for small portions of hereditary breast cancer but collectively account for about another quarter of hereditary breast cancer now these genes everybody has them everybody actually has two copies of brca1 and 2 copies of brca2 we get one copy from our mother and one copy from our father and so the question comes up if everybody has these genes then how do they contribute to cancer risk and some people and not everybody the important thing to focus on is not whether you have the gene it's whether the genes that you have are working properly and so when these genes are working properly they actually help prevent cancer in our bodies they're in every cell and they make sure that those cells are growing and dividing properly for someone who has a BRCA mutation that change causes the gene to not be able to do its job properly it essentially stops working and so for people with one of these mutations we know that their chance of developing cancer at some point in their lives is higher compared to somebody without a mutation for a woman with a BRCA mutation we know that the lifetime chance of developing breast cancer can be upward of 80% and the lifetime chance of developing ovarian cancer can be up to 40% a really common misconception with BRCA is that these mutations are only relevant to women and while it's true that the highest cancer risks are for female cancers we know that men have an equal chance of inheriting one of these mutations as carrying a BRCA mutation and for these men there is an increase in cancer risk specifically for male breast cancer which is very rare in the general population and also for prostate cancer which is the most common male cancer but it develops even more commonly in men with a BRCA mutation so breast cancer is a common disease in women more common than certainly we would like and I've chosen really to take on the task of understanding what are the genetic causes of breast cancer how can we identify them in particular patients and then how can we use that information to prevent breast cancer because of these increased cancer risks there are different medical recommendations that are made for BRCA mutation carriers whether it's increased cancer surveillance different treatment methods or the option of risk reducing prophylactic surgeries so there are there are things that we can do on the clinic end once we know about a BRCA mutation but the first step is always identifying it and to identify it we use genetic testing the genetic testing for BRCA is fairly straightforward from a logistic standpoint it's a simple blood test it is a test that needs to be ordered by a healthcare professional so not something you can just send in from your house but once the testing is off we get results typically within three weeks so it's a quick turnaround time and then once those results come back then the healthcare provider can can walk you through the implications of that result it's really important to note that this testing is not appropriate for everybody not even everybody with breast cancer will be recommended to have this testing we like to restrict it to people who have a high risk of having a positive result come back so it's important for anybody who's interested student learning more about these jeans and this testing and to see if it's appropriate for their family to make sure to go in to talk to somebody who's who has the background to offer this testing and to counsel about it like a genetic counselor or another healthcare provider so BRCA testing has been available clinically for a number of years now options for testing have been limited because of the patent issues and that's obviously changing but BRCA testing like other types of genetic testing has really evolved from in the beginning being able to offer patients just a few testing for a few mutations that were known to larger panels of mutations that were known and then for some time now offering them full gene sequencing for the two genes that are known to be one of the main causes of hereditary breast cancer brca1 and 2 the other type of testing that's become available more recently is that there's a type of mutation we call them deletions or duplications so copy number changes within the brca1 and 2 gene that also caused the same hereditary breast and ovarian cancer syndrome but have been a little bit more challenging to test for and aren't identified by traditional gene sequencing and so that testing has become more recently available to patients and and has primarily been applied to patients who one would suspect of having a brca1 or 2 mutation but had previously tested negative and then their clinicians have gone on to offer them deletion and duplication testing more recently I think it's become clear that the deletions and duplications may be more common than we had previously thought and so now as with other genes sometimes that testing is actually done concurrently or at the same time as full gene sequencing ambry launched BRCA testing on June 13th the day that the Supreme Court ruled that genomic DNA was not was not patent eligible and we launched testing in a couple of different ways so we have been doing hereditary breast cancer testing for over a year now probably close to a year and a half now with with panel gene testing to test like our breasts next panel or over next panel and remember I mentioned that in addition to brca1 and 2 there are lots of other genes that do cause hereditary breast cancer but individually make up only a small piece of hereditary breast cancer which is why we built those panels now when we launched those panels in 2012 it would have been great if we could have added brca1 and 2 to them since they account for so much of hereditary breast cancer but obviously couldn't due to the restrictions of patenting at that time so when those restrictions got lifted we decided to launch BRCA testing in a couple different ways so we're offering it in the traditional way which is that we do full gene sequencing for the two genes and we also look for those deletions and duplications that are not picked up through full gene sequencing the other thing we've done is to add it to our currently existing panels so our breast next panel and our open X panel now include brca1 and 2 and the third thing we did was to carve out a high risk or clinically actionable panel six genes for which there are clinically relevant recommendations that is to say if you find a mutation one of these genes there are guidelines that will tell you how to manage your patient which isn't true for all of the newer genes that have been discovered to be involved in this disorder so six genes high all high risk all clinically actionable that we offer concurrent testing for at the same time Oh you

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