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A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data.
Genome Biol
July 2024
Computational Biology Research Centre, Human Technopole, Milan, Italy.
Background: CRISPR-Cas9 dropout screens are formidable tools for investigating biology with unprecedented precision and scale. However, biases in data lead to potential confounding effects on interpretation and compromise overall quality. The activity of Cas9 is influenced by structural features of the target site, including copy number amplifications (CN bias).
View Article and Find Full Text PDFNext generation sequencing for personalized therapy: About a class III BRAF N581K mutation associated to NRAS Q61L mutation in malignant melanoma: Case report.
Heliyon
August 2023
Dermatology Department, Caen University Hospital, Avenue Côte-de-Nacre, 14000 Caen, France.
In metastatic stage, therapeutic approach for malignant melanoma is particularly based on performance status, metastatic sites, and status (/ or (class I mutations). In most cases, mutations and mutations are mutually exclusive to each other. However, some rare mutations class III are preferentially associated with a mutation, leading to the MAP Kinase pathway activation and subsequent cell proliferation.
View Article and Find Full Text PDFFirst report of medulloblastoma in a patient with MUTYH-associated polyposis.
Neuropathol Appl Neurobiol
August 2023
Department of Genetics, Institut Curie, Paris, France.
Article Synopsis
- - The study focuses on the role of the MUTYH gene, which codes for a DNA glycosylase that helps prevent certain types of genetic mutations linked to an increased risk of colorectal cancer in individuals with MUTYH-associated polyposis (MAP).
- - Researchers report a rare case of medulloblastoma in a MAP patient with a specific harmful mutation in the MUTYH gene, using whole exome sequencing to analyze genetic variants and mutational signatures.
- - Findings show that the medulloblastoma exhibits a mutational pattern associated with MUTYH deficiency, indicating that this type of cancer could potentially be linked to mutations in the MUTYH gene.
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.
Eur J Med Genet
January 2022
Département de Génétique (Department of Genetics), Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, France. Electronic address:
The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of MUTYH loss of function in the oncogenesis remains unclear.
View Article and Find Full Text PDFBackground: Prostate transmembrane protein androgen-induced 1 (PMEPA1), a critical checkpoint of multiple signaling pathways, has been demonstrated to play a crucial role in various types of cancers. However, little is known about its function in non-small cell lung cancer (NSCLC).
Objective: Our objective is to explore the function of PMEPA1 and its potential mechanisms in NSCLC progression.
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