APOE Mutation Associated With Reduced Alzheimer’s Disease Risk
Oct 20, 2021 · The apolipoprotein E, or APOE, gene is the strongest genetic risk factor for developing Alzheimer's disease. However, a rare variant of this gene that was previously identified by Mayo researchers as APOE p. V236E, is associated with a protective effect. The gene variant is now named after the city where the research team is based: APOE3 ...
Mayo study finds colon cancer driven by hereditary gene …
Apr 19, 2021 · This mutation would not have been detected in half of these patients using a standard guideline-based approach. "We found that 13.5% of patients had an inherited mutation in a gene associated with the development of their cancer," says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist, who is the study's author ...
Identifying inherited gene mutations in pancreatic cancer can lead …
Nov 24, 2022 · Identifying hereditary gene mutations in pancreatic cancer can help determine individualized treatments and potentially prolong survival, according to new Mayo Clinic Center for Individualized Medicine research. In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed with pancreatic cancer were found to have …
Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited ...
Nov 2, 2020 · This mutation would not have been detected in half of these patients using a standard guideline-based approach. "We found that 13.5% of patients had an inherited mutation in a gene associated with the development of their cancer," says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist, who is the study's author ...
Mayo Clinic Q and A: Genetic counseling after cancer diagnosis
Nov 14, 2022 · Gene changes are like spelling errors within the body's instruction manual. Most genetic tests look for changes in a group of genes called a panel. However, testing may look for changes in a single gene when there is a known genetic mutation in your family. The most common genes typically thought of related to cancer risk are BRCA1 and BRCA2.
New research platform assesses brain cancer mutations during …
May 30, 2024 · The platform uses mass spectrometry to identify a key gene mutation in brain cancer, known as isocitrate dehydrogenase (IDH) mutations, in real time. Mass spectrometry is a sensitive technique used to analyze substances in tissue …
Mayo Clinic Q and A: Understanding and managing familial ...
Apr 18, 2017 · The gene mutation that causes familial hypercholesterolemia is passed from parent to child. Children with familial hypercholesterolemia inherit a defective copy of the gene from one parent. In most cases, they have one affected gene and one normal gene. In rare cases, a person inherits an affected copy of the gene from both parents.
Mayo Clinic Q and A: Lynch syndrome and genetic testing
Apr 10, 2018 · Lynch syndrome is an inherited disorder that runs in families. If one of your parents carries a gene mutation for Lynch syndrome, there’s a 50 percent chance that the mutation will be passed on to you. About 1 in 200 people has Lynch syndrome. Lynch syndrome raises the risk of colon cancer. Lynch syndrome also has a tendency to cause colon ...
Newly discovered genetic variants in a single gene cause ...
Jul 1, 2021 · ROCHESTER, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to …
Cardiac amyloidosis 101: Why early diagnosis and targeted …
Feb 21, 2024 · Hereditary type transthyretin amyloid is caused by a gene mutation and is considered rare, except in Black Americans. Not everyone with the gene variation will get the condition. "The key thing, once a clinician suspects amyloid, is that it's a medical emergency." Dr. Grogan says amyloidosis is tricky to diagnose. At first, there are no symptoms.