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Feasibility of a cancer screening program using multicancer early detection testing and whole-body magnetic resonance imaging in a high-risk population.
Cancer
January 2025
Division of Clinical Cancer Genomics, Department of Medical Oncology, City of Hope National Medical Center, Duarte, California, USA.
Background: The authors assessed the feasibility, acceptability, and impact on cancer worry of a cancer screening program using multicancer early detection (MCED) tests and whole-body magnetic resonance imaging (WBM) in individuals at high cancer risk because of family history or germline variants in cancer-susceptibility genes.
Methods: This prospective trial enrolled participants aged 50 years and older who had a significant family history of cancer or a cancer-susceptibility gene variant. Participants underwent noncontrast WBM and MCED testing.
Experts' perspectives on human gene editing in Switzerland.
J Community Genet
December 2024
Health Ethics and Policy Lab, Health Sciences and Technologies Department ETH Zurich, Zurich, Switzerland.
Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their views towards HGE and how they expect the Swiss public to view HGE. We found general acceptance of Somatic Gene Editing (SGE), but opinions towards Germline Gene Editing (GGE) were more divided.
View Article and Find Full Text PDFA missense variant effect map for the human tumor-suppressor protein CHK2.
Am J Hum Genet
December 2024
The Donnelly Centre, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address:
The tumor suppressor CHEK2 encodes the serine/threonine protein kinase CHK2 which, upon DNA damage, is important for pausing the cell cycle, initiating DNA repair, and inducing apoptosis. CHK2 phosphorylation of the tumor suppressor BRCA1 is also important for mitotic spindle assembly and chromosomal stability. Consistent with its cell-cycle checkpoint role, both germline and somatic variants in CHEK2 have been linked to breast and other cancers.
View Article and Find Full Text PDFUptake of Risk-Reducing Salpingo-Oophorectomy and Gynaecologic Surveillance Among Germline BRCA Pathogenic Variants Carriers.
Cancer Med
December 2024
Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy.
Article Synopsis
- Risk-reducing salpingo-oophorectomy (RRSO) is recommended for women with BRCA1/2 pathogenic variants to prevent ovarian cancer, but many still refuse the surgery despite its benefits.
- A study at a referral center in Italy analyzed 287 women, finding a high uptake rate of 96.1% for RRSO after counseling, although some women were hesitant due to fears about menopause and childbearing.
- The study suggests that a specialized clinic with a supportive team and options for surveillance plays a crucial role in encouraging women to consider risk-reducing surgery.
A decade of public engagement regarding human germline gene editing: a systematic scoping review.
Eur J Hum Genet
November 2024
Erasmus Medical Center, Department of Clinical Genetics, Rotterdam, the Netherlands.
Following the discovery of the CRISPR-Cas technology in 2012, there has been a growing global call for public engagement regarding the potential use of human germline gene editing (HGGE). In this systematic scoping review, we aim to evaluate public engagement studies considering the following questions based on three points of attention: 1) Inclusion of underrepresented groups: who have been engaged? 2) Gathering values: what output has been reported? 3) Reaching societal impact: what objectives of public engagement have been reported? A systematic literature search from 2012 to 2023 identified 3464 articles reporting on public engagement studies regarding HGGE retrieved from 12 databases. After screening, 52 full-text articles were assessed for eligibility, resulting in 36 articles that cover 31 public engagement studies.
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