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Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
NPJ Genom Med
January 2025
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, only half of which is explained. Previously, we performed germline exome sequencing on BRCA1 and BRCA2-negative HGSOC patients, revealing three proposed and 43 novel candidate genes enriched with rare loss-of-function variants. For validation, we undertook case-control analyses using genomic data from disease-free controls.
View Article and Find Full Text PDFGERMLINE PATHOGENIC VARIANTS IN PATIENTS WITH PANCREATIC DUCTAL ADENOCARCINOMA AND EXTRA-PANCREATIC MALIGNANCIES: A NATIONWIDE DATABASE ANALYSIS.
Mod Pathol
January 2025
Department of Pathology, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address:
Pancreatic ductal adenocarcinoma (PDAC) is a lethal disease. About 10% of affected individuals have an inherited component. Deleterious germline variants increase the lifetime risk for PDAC and are often associated with an elevated risk for extra-pancreatic malignancies.
View Article and Find Full Text PDFBreast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
JAMA Netw Open
December 2024
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Importance: Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if these associations occur in ER-specific CBC.
Objective: To determine the association of deleterious germline variants in breast cancer susceptibility genes with ER-specific CBC development and whether ER status of the first primary breast cancer modifies these associations.
Design, Setting, And Participants: This case-control study included CBC cases and matched unilateral breast cancer controls from The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study, a population-based case-control study.
A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.
Front Oncol
December 2024
Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil.
Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC.
View Article and Find Full Text PDFComprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
Int J Mol Sci
November 2024
Department of Molecular Genetics and The National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Centre, Ráth György u. 7-9, 1122 Budapest, Hungary.
Using multigene panel testing for the diagnostic evaluation of patients with hereditary breast and ovarian cancer (HBOC) syndrome often identifies clinically actionable variants in genes with varying levels of penetrance. High-penetrance genes (, , , , , , ) inform specific clinical surveillance and therapeutic decisions, while recommendations for moderate-penetrance genes (, , , , , , , , , , , ) are more limited. A detailed disease history, including pedigree data, helps formulate the most appropriate and personalised management strategies.
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