Publications by authors named "P Macquere"
Pathogenic Variants (PV) in major cancer predisposition genes are only identified in approximately 10% of patients with Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Next Generation Sequencing (NGS) leads to the characterization of incidental variants in genes other than those known to be associated with HBOC syndrome. The aim of this study was to determine if such incidental PV were specific to a phenotype.
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- Inversions, which are DNA orientation changes, can cause human diseases but are often overlooked because they do not produce an obvious imbalance in genetic material.* -
- The study highlights two families: one with constitutional mismatch repair deficiency and history of colon cancer (F1), and another with a severe history of Lynch syndrome (F2), showcasing the impact of inversions on gene expression.* -
- Utilizing a whole gene panel approach allowed for the detection of significant inversions in the PMS2 and MSH6 genes, emphasizing the importance of genomic sequencing in improving diagnosis rates.*
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs.
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- A massive parallel sequencing approach has been developed for diagnosing inherited colorectal cancer (CRC) by quickly capturing and analyzing specific genetic sequences in 10 key genes linked to Mendelian CRC.
- The sequencing was performed using advanced Illumina platforms and involved a comprehensive bioinformatics pipeline for precise mapping, variant calling, and structural variant detection.
- The analysis of 1644 cases revealed a 20% detection rate of harmful genetic variants, which increased to 37% for Lynch syndrome patients, highlighting the method's effectiveness in identifying complex genetic alterations related to CRC.