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Novel and Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort.
Int J Mol Sci
December 2024
Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Accumulating evidence suggests that inherited melanoma is not rare and approx. one in seven individuals with melanoma has clinically relevant hereditable cancer-predisposing and/or -susceptibility variant(s). Concerning its germline genetic background, genetic screening aims to identify either variants of predisposing genes with high penetrance or variants of susceptibility genes with medium or low penetrance.
View Article and Find Full Text PDFRisk factors and protective measures for desmoid tumours in familial adenomatous polyposis: retrospective cohort study.
BJS Open
December 2024
Unit of Hereditary Digestive Tract Tumours, Fondazione IRCCS Istituto Nazionale dei Tumouri, Milan, Italy.
Background: Familial adenomatous polyposis is a cancer-predisposing syndrome caused by germline pathogenic variants of the adenomatous polyposis coli gene, leading to numerous colorectal polyps and a high risk of colorectal cancer. Desmoid tumours have become significant in the management of familial adenomatous polyposis after a colectomy, yet the exact incidence remains undetermined due to a lack of dedicated surveillance.
Methods: This retrospective study accessed data from the prospectively maintained Hereditary Digestive Tumours Registry from 2000 to 2023.
Non-RB1 germline cancer predisposing variants found in retinoblastoma patients.
Genet Med Open
March 2024
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY.
Purpose: It is well known that individuals with hereditary retinoblastoma are at lifelong high risk for developing subsequent malignant neoplasms (SMN). However, the role that non- germline variants play in tumorigenesis and SMN risk has not yet been studied. The purpose of this study is to report the frequency and spectrum of non- germline cancer predisposing variants in individuals with retinoblastoma (RB).
View Article and Find Full Text PDFTelomeres protect chromosomal integrity, and telomere length (TL) is influenced by environmental and genetic factors. While short-telomeres are linked to rare telomeropathies, this study explored the hypothesis that a "long-telomeropathy" is associated with a cancer-predisposing syndrome. Using genomic and health data from 113,861 individuals, a trans-ancestry polygenic risk score for TL (PRS ) was developed.
View Article and Find Full Text PDFGenetic Testing and Analysis in Breast Cancer Patients in Greece.
Cureus
November 2024
First Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, GRC.
Article Synopsis
- Genetic testing for inherited breast cancer pathogenic variants (PVs) assists in making informed treatment decisions for patients.
- The study involved 146 women tested for genetic variants through a comprehensive 94-cancer gene panel, revealing 17 PVs and 4 variants of unknown significance, highlighting an 11.6% prevalence rate.
- Findings reinforce the importance of genetic testing in clinical management, which could improve counseling and treatment strategies for patients and their families.
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