Publications by authors named "M Ferber"
Purpose: This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population.
Methods: We retrospectively studied 25,591 women with available electronic health records and genetic data, participants in the Healthy Nevada Project.
Results: Family history of breast cancer was ascertained on or after the record of breast cancer for 78% of women with both, indicating that this risk assessment method is not being properly utilized for early screening.
Objective: To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.
Patients And Methods: Between July 1, 2020, and May 31, 2024, we invited 1,287,608 adult Mayo Clinic patients to participate in Tapestry. Of those contacted, 114,673 patients were consented and 98,222 (65.
Article Synopsis
- - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
- - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
- - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
Article Synopsis
- - The study aimed to determine if exome sequencing could help efficiently identify individuals with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS), which are genetic conditions linked to increased cancer risk.
- - Over 44,000 participants were recruited across diverse regions in the U.S., resulting in the identification of 550 carriers of HBOC and LS, with 52.1% being newly diagnosed and 39.2% not meeting current genetic evaluation criteria.
- - The findings suggest a need for broader use of germline genetic screening to improve the screening and detection of those predisposed to these cancer syndromes, particularly among underrepresented populations.