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June 21, 2020
Companies such as Ancestry and 23andMe, which sell novelty DNA ancestry tests for genealogy research, are now promoting the ability of their tests to detect hereditary cancer genes. Hereditary cancer genes are altered genes that increase an individual’s risk of developing cancer and are inherited by a child from their parent, usually resulting in a family history of cancer. While the convenience of being able to screen your DNA for hereditary cancer genes while learning about your genealogy may at first sound appealing, hereditary cancer screenings performed by clinical labs versus ancestry testing companies are not the same...
June 25, 2020
Today, there are thousands of gene variations associated with an increased risk of developing cancer. With such a large number of gene variations affecting disease development, it’s easy to overlook exactly how they’re discovered. Some of these variants are quite common with a small effect size, or low contribution to the development of a particular disease, and others are exceedingly rare variants with a large effect, such as hereditary cancer gene mutations. For the purposes of this article, we’ll focus on the discovery of uncommon gene mutations with a large effect, the methods used, and how mutation identification can...
After a long ER shift, you are wrapping up your day when a patient comes in and complains of “feeling off.” When you ask about her symptoms, she describes several episodes of feeling lightheaded and the sense that her heart is “racing.” Her husband adds that she has recently had a fainting episode while at the gym and another at the grocery store. She adds that, prior to these episodes, she experienced some weakness and blurring of vision. In order to differentiate your diagnosis between Long QT syndrome and other conditions, you inquire about the duration of her symptoms. She indicates that her symptoms started around the time of her...
July 14, 2020
A cancer diagnosis is often a devastating experience for a patient and their family. Multiple cancer diagnoses in the same family are no exception, and often prompt physicians and concerned family members to question whether or not their cancer is hereditary, or passed from an affected parent on to their child.
By Dave Dubin on July 28, 2020
Patients with Lynch syndrome are unique in that Lynch syndrome is very prevalent, but still receives little notoriety. Lynch originally was termed as HNPCC, hereditary non-polyposis colorectal cancer, and therefore still is often considered a colon cancer syndrome, regardless of implications with gynecological cancers and more. Lynch can predispose someone to colon and/or endometrial cancer, but also stomach, liver, ovarian, kidney, bladder, skin and more. Lynch does not 100% guarantee a person’s potential to get cancer, but the percentages are significantly higher than the average person, and usually at a...
August 3, 2020
Liver cancer is the most common type of cancer in some sub-Saharan and Southeast Asian countries. While liver cancer is much less common in the United States, the incidence rates of liver cancer have tripled since 1980. Here, we outline the symptoms, causes and treatments for liver cancer, and how genetics can contribute to disease development.