Mayo Clinic Laboratory and Pathology Research Roundup: May 29

By Kelley Luedke • May 29, 2017

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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

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Genome-wide association studies have identified 94 common single-nucleotide polymorphisms associated with breast cancer risk and 18 associated with ovarian cancer risk. Several of these are also associated with risk of breast cancer or ovarian cancer for women who carry a pathogenic mutation in the high-risk breast cancer and ovarian cancer genes BRCA1 or BRCA2. The combined effects of these variants on breast cancer or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Mayo Clinic researchers constructed polygenic risk scores using breast cancer and ovarian cancer susceptibility single-nucleotide polymorphisms identified through population-based genome-wide association studies: for breast cancer (overall, estrogen receptor-positive, and estrogen receptor-negative) and for ovarian cancer. The study found breast cancer and ovarian cancer polygenic risk scores are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the polygenic risk scores into risk prediction models has promise to better inform decisions on cancer risk management. The study was published in the Journal of the National Cancer Institute.

Published to PubMed This Week

• Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer
  Journal of the National Cancer Institute
• DUSP22 and TP63 Rearrangements Predict Outcome of ALK-Negative Anaplastic Large Cell Lymphoma: A Danish Cohort Study
  Blood
  
• Intracranial Gadolinium Deposition Following Gadodiamide-Enhanced Magnetic Resonance Imaging in Pediatric Patients: A Case-Control Study
  JAMA Pediatrics
• IGF1R Protein Expression is Not Associated with Differential Benefit to Concurrent Trastuzumab in Early-Stage HER2 Breast Cancer from the North Central Cancer Treatment Group (Alliance) Adjuvant Trastuzumab Trial N9831
  Clinical Cancer Research
• A Randomized, Controlled Trial of Rituximab in IgA Nephropathy with Proteinuria and Renal Dysfunction
  Journal of the American Society of Nephrology
• Towards a Molecular Classification of Pulmonary Sarcomatoid Carcinomas
  Journal of Thoracic Oncology
• Advances Afoot in Microbiology
  Journal of Clinical Microbiology
• Prehospital Plasma Resuscitation Associated With Improved Neurologic Outcomes After Traumatic Brain Injury
  Journal of Trauma and Acute Care Surgery
• Improved Detection of Mineral Oil Toxicity Using an Extended Mouse Embryo Assay
  Journal of Assisted Reproduction and Genetics
• Combining a Nontargeted and Targeted Metabolomics Approach to Identify Metabolic Pathways Significantly Altered in Polycystic Ovary Syndrome
  Metabolism
• A Case of Intramural Coronary Amyloidosis Associated with Hemodialysis
  Autopsy and Case Reports

Kelley Luedke

Kelley Luedke is a Marketing Channel Manager at Mayo Clinic Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her kitty, and exploring new foods.