Mayo Clinic Laboratory and Pathology Research Roundup: March 5

By Sarah Jarvis • March 5, 2024

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The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.

Featured Abstract

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.

Variants of uncertain significance (VUSs) in BRCA2 are a common result of hereditary cancer genetic testing. While more than 4,000 unique VUSs, comprised of missense or intronic variants, have been identified in BRCA2, the few missense variants now classified clinically as pathogenic or likely pathogenic are predominantly located in the region encoding the C-terminal DNA binding domain (DBD). We report on functional evaluation of the influence of 462 BRCA2 missense variants affecting the DBD on DNA repair activity of BRCA2 using a homology-directed DNA double-strand break repair assay.

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Published to PubMed This Week

• Prevalence and impact of fertility concerns in young women with breast cancer.
  Scientific Reports
• Sarcomas harboring EWSR1::PATZ1 fusions: A clinicopathologic study of 17 cases.
  Modern Pathology
• Infliximab Therapeutic monitoring by tryptic peptide LC-MS/MS method improvements lead to improved accuracy with decreased imprecision and turnaround time.
  Journal of Mass Spectrometry and Advances in the Clinical Lab
• Imprecision of high-sensitivity cardiac troponin assays at the female 99th-percentile.
  Clinical Biochemistry
• Newborn screening for Krabbe disease: Status quo and recommendations for improvements.
  International Journal of Neonatal Screening
• This is giving me a complex: a practical attempt to streamline nontuberculous mycobacteria nomenclature for clinical purposes.
  Journal of Microbiology
• Primary pulmonary myxoid sarcoma and thoracic angiomatoid fibrous histiocytoma: Two sides of the same coin?
  The American Journal of Surgical Pathology
• Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients.
  American Journal of Clinical Pathology
• Genomic attributes of prostate cancer across primary and metastatic noncastrate and castrate resistant disease states: a next generation sequencing study of 183 patients.
  Prostate Cancer and Prostatic Diseases
• Membranous nephropathy treatment standard.
  Nephrology, Dialysis, Transplantation

Sarah Jarvis

Sarah Jarvis is a Senior Marketing Specialist at Mayo Clinic Laboratories. She supports marketing strategies for paid media.