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August 17, 2020
Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome that affects about 1 in every 5,000 to 20,000 people worldwide. The syndrome is named for the two physicians, Frederick Li and Joseph Fraumeni, that discovered the disorder. LFS is also more descriptively known as sarcoma, breast, leukemia and adrenal gland (SBLA) syndrome, as affected patients have a much higher than average risk of developing these cancers.
September 1, 2020
Blood, or hematologic, cancers are characterized by uncontrolled multiplication of cancerous blood cells, which interfere with the function of normal blood cells. Blood cancers account for about 10 percent of all cancer diagnoses and are more common in men than women. Over 100 blood cancers have been identified. These cancers are classified as leukemias, lymphomas or myelomas, and can progress quickly (acute) or slowly (chronic), depending on the specific diagnosis. In recognition of Blood Cancer Awareness Month this September, we highlight new research identifying an increased risk of developing blood cancer in individuals...
The goal of pharmacogenetics in any disease treatment is to tailor the best therapeutic intervention for each individual patient based on their unique genetics, and the stakes are rarely greater when it comes to the treatment of cancer. Recently, it was hypothesized that CYP2D6 ultrarapid metabolizer (UM) breast cancer patients may have a better, or at least no worse, response to standard tamoxifen therapy than normal metabolizers (NMs).1 In order to investigate this hypothesis, a recent study from the Journal of Clinical Oncology analyzed tamoxifen side effects, drug discontinuation and disease mortality for all four CYP2D6 metabolizer...
You’ve just started your shift in the Emergency Department when a desperate mother brings in her daughter. She reports her daughter is having trouble breathing and was recently making jerking movements.1 The patient, a 14-year-old girl with Angelman syndrome, was experiencing what the mother perceived as hip pain the night prior to the ER visit. The mother administered the patient one dose of Tylenol #3 at that time.
Variation in our genes compared to another person’s genes isn’t an inherently bad thing; in fact, all of those changes in our DNA--our As, Cs, Gs and Ts--are the genetic code that makes us who we are as individuals. Variations in certain genes, however, can change the way our body handles and converts medications, and sometimes with very serious consequences.
Due to naturally occurring variations in our genes, people metabolize, or process, certain medications at different rates. The study of how efficiently people are able to metabolize medication is called pharmacogenetics. Pharmacogenetics categorizes this efficiency into 4 metabolic statuses for the breakdown of a particular medication:
- Poor metabolizers (PM) - very slow breakdown
- Intermediate metabolizers (IM) - slower than normal breakdown
- Normal metabolizers (NM) - normal breakdown
- Ultra-rapid metabolizers (UM) - faster than normal breakdown