Pathogenic Germline Variants in Cancer Predisposition Genes | Santiago Thibaud, MD | ASH 2023

Hi, my name is Santiago Thibault. I'm a myeloma doctor at Mount Sinai in New York. And I would love to share with you the results of a study that I presented here at ASH. And basically, the study is, you know, one of the main or one of the first questions that I get as a myeloma doctor when a patient comes to see me and they were just diagnosed with myeloma is, you know, is this something that runs in my family? Is there a genetic component to this? And the truth is, we historically, the answer to that question has been, we don't know. We don't know. It doesn't appear to be that, you know, there are other cancers like breast cancer and colon cancer, which, you know, very clearly run in families. With myeloma, it was never that clear. But we're learning more and more about how your genetic makeup, the, you know, the gene mutations that you may have been born with can affect your predisposition to develop myeloma, much like other cancers. So the work that I presented was reporting on how a subset of patients, this is not all patients, but it's a subset of patients with myeloma, approximately somewhere in the realm of five to 10 percent, may have some mutation that they were born with that makes them more likely to develop myeloma. This is preliminary work. It needs to be confirmed in various ways. But it is a very interesting lead and something that could have major implications for patients and their families, right? Because if we identify certain patients that are more likely to have these mutations, we may be able to recommend that those patients undergo the right testing to identify these mutations, right? And if they are found, that may lead to other family members getting tested. So the data that we're presenting, again, seems to show this, that there is a subset of patients who may have, especially if you've had other cancers in your lifetime prior to developing myeloma, or you have a very strong family history of cancer, even if it is not history of myeloma, could be history of other cancers, then potentially you might benefit from being tested for these mutations. So that is the work that I wanted to share with you. We hope to be publishing on this soon. Thank you, Health Tree, for the opportunity to present the work.