Mayo Clinic Laboratory and Pathology Research Roundup: June 25
The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.
Featured Abstract
Association between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
Individuals genetically predisposed to pancreatic cancer may benefit from early detection. Genes that predispose to pancreatic cancer and the risks of pancreatic cancer associated with mutations in these genes are not well defined. Mayo Clinic researchers conducted a study to determine whether inherited germline mutations in cancer predisposition genes are associated with increased risks of pancreatic cancer. Individuals were classified based on carrying a deleterious mutation in cancer predisposition genes and having a personal or family history of cancer. Germline mutations in coding regions of 21 cancer predisposition genes were identified by sequencing of products from a custom multiplex polymerase chain reaction-based panel; associations of genes with pancreatic cancer were assessed by comparing frequency of mutations in genes of pancreatic cancer patients with those of reference controls. In this case-control study, mutations in six genes associated with pancreatic cancer were found in 5.5% of all pancreatic cancer patients, including 7.9% of patients with a family history of pancreatic cancer and 5.2% of patients without a family history of pancreatic cancer. Further research is needed for replication in other populations. The study was published in JAMA.
Published to PubMed This Week
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- Genetic Subtyping of Breast Implant-Associated Anaplastic Large Cell Lymphoma
Blood - Principled Multi-Omic Analysis Reveals Gene Regulatory Mechanisms of Phenotype Variation
Genome Research - Inferior Survival in High-Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements is Not Associated with MYC/IG Gene Rearrangements
Haematologica - Analysis of Fecal Primary Bile Acids Detects Increased Stool Weight and Colonic Transit in Patients with Chronic Functional Diarrhea
Clinical Gastroenterology and Hepatology - Plasma Ceramides: A Novel Predictor of Major Adverse Cardiovascular Events After Coronary Angiography
Arteriosclerosis, Thrombosis, and Vascular Biology - Sex Differences in NSAID-Induced Perturbation of Human Intestinal Barrier Function and Microbiota
FASEB Journal - Very Poor Long-Term Survival in Past and More Recent Studies for Relapsed AML Patients: The ECOG-ACRIN Experience
American Journal of Hematology - Magnitude of Benefit for Adjuvant Radiotherapy Following Minimally Invasive Surgery in Intermediate to High Risk HPV-Positive Oropharyngeal Squamous Cell Carcinoma
Oral Oncology - The Changing Spectrum of Heroin-Associated Kidney Disease
Clinical Journal of the American Society of Nephrology - Lichen Planus: A Rare Cause of a Narrowed Esophagus
Journal of Gastrointestinal and Liver Diseases - Prognostic Factors and Benefits of Adjuvant Therapy After Pancreatoduodenectomy for Ampullary Adenocarcinoma: Mayo Clinic Experience
European Journal of Surgical Oncology - Comparing the Performance of CA 15-3 CSF to Cytology in a Cohort of Patients with Breast Cancer Leptomeningeal Metastasis
Clinical Biochemistry - Peribiliary Cysts: A Systematic Review and Proposal of a Classification Framework
BMJ Open Gastroenterology - Synchronous Epstein-Barr Virus-Associated Skull Base and Adrenal Smooth-Muscle Tumors in an 8-Year-Old Girl with Recent Epstein-Barr Virus Infection
Journal of Neurosurgery: Pediatrics - Hepatosplenic γδ T-Cell Lymphoma of Two Adolescents: Case Report and Retrospective Literature Review in Children, Adolescents, and Young Adults
Pediatric Transplantation
- Genetic Subtyping of Breast Implant-Associated Anaplastic Large Cell Lymphoma
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