This Letter to the Editor responds to concerns regarding a recently published analysis of BRCA1 and BRCA2 variant classifications between a single testing laboratory (Myriad Genetic Laboratories) and a database of user‐submitted variant classifications (ClinVar).
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728029 | PMC |
| http://dx.doi.org/10.1634/theoncologist.2017-0320 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Deterministic and stochastic effects drive the gut microbial diversity in cucurbit-feeding fruit flies (Diptera, Tephritidae).
PLoS One
January 2025
Department of Biology, Royal Museum for Central Africa (RMCA), Tervuren, Belgium.
Insect diversity is closely linked to the evolution of phytophagy, with most phytophagous insects showing a strong degree of specialisation for specific host plants. Recent studies suggest that the insect gut microbiome might be crucial in facilitating the dietary (host plant) range. This requires the formation of stable insect-microbiome associations, but it remains largely unclear which processes govern the assembly of insect microbiomes.
View Article and Find Full Text PDFMolecular Survey of Protist Enteroparasites in Bats (Order Chiroptera) from Portugal.
Acta Parasitol
January 2025
ICBAS-Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Purpose: Bats constitute 20% of all mammal species, playing a vital role in ecosystem health as pollinators, seed dispersers, and regulators of insect populations. However, these animals can also be reservoirs for infectious agents, including viruses, bacteria, and enteroparasites such as Cryptosporidium spp., Giardia duodenalis, and Balantioides coli, raising questions about their role in the epidemiology of these agents.
View Article and Find Full Text PDFRadiological and anatomical evaluation of the internal venous system in the context of access to the third ventricle - proposal of a new classification.
Acta Neurochir (Wien)
January 2025
Department of Neurosurgery and Neurooncology, Medical University of Lodz, Barlicki University Hospital, Lodz, Poland.
Background: The internal venous system of the brain is a crucial anatomical landmark during accesses to the third ventricle through the foramen of Monro. Many classifications based on radiological assessment of the system have been developed, but they tend to be descriptive and do not highlight favorable anatomical variants. The aim of our study was to create a system based on morphometric measurements to facilitate preoperative decision-making regarding access to third ventricle tumors.
View Article and Find Full Text PDFSystemic Mastocytosis: Current Status and Challenges in 2024.
Blood Adv
January 2025
University of Michigan, Ann Arbor, Michigan, United States.
Systemic mastocytosis (SM) is a rare disease and has had significant discoveries in its biology, prognostication, and management in the past two decades. The latest update of the WHO classification and the new ICC classification are current standards in the diagnosis and prognostication of SM. In clinical practice, SM can be divided into two main categories: non-advanced SM (nonAdvSM) and advanced SM (AdvSM).
View Article and Find Full Text PDFTP53 Mutant Variant Allele Frequency and Cytogenetics Determine Prognostic Groups in MDS/AML for Transplantation.
Blood Adv
January 2025
The University of Texas, MD Anderson Cancer Center, Houston, Texas, United States.
Results following hematopoietic stem cell transplantation (HSCT) for TP53-mutated myeloid malignancies are disappointing. Several HSCT centers decline to perform HSCT for patients with TP53 mutation because of poor outcomes. In this study, we analyzed 240 patients with TP53-mutated myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) that underwent HSCT.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!