ORCID Profile
0000-0002-4518-8591
Current Organisation
Hospital Clínic de Barcelona
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Publisher: Springer Science and Business Media LLC
Date: 13-02-2023
Publisher: MDPI AG
Date: 10-09-2023
Publisher: Springer Science and Business Media LLC
Date: 20-12-2022
Publisher: Public Library of Science (PLoS)
Date: 06-09-2013
Publisher: MDPI AG
Date: 28-06-2021
DOI: 10.3390/JCM10132856
Abstract: Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
Publisher: S. Karger AG
Date: 10-2020
DOI: 10.1159/000511867
Abstract: Background: Guidelines give robust recommendations on which biopsies should be taken when there is endoscopic suggestion of gastric inflammation. Adherence to these guidelines often seems arbitrary. This study aimed to give an overview on current practice in tertiary referral centres across Europe. Methods: Data were collected at 10 tertiary referral centres. Demographic data, the indication for each procedure, endoscopic findings, and the number and s ling site of biopsies were recorded. Findings were compared between centres, and factors influencing the decision to take biopsies were explored. Results: Biopsies were taken in 56.6% of 9,425 procedures, with significant variation between centres (p 0.001). Gastric biopsies were taken in 43.8% of all procedures. S ling location varied with the procedure indication (p 0.001) without consistent pattern across the centres. Fewer biopsies were taken in centres which routinely applied the updated Sydney classification for gastritis assessment (46.0%), compared to centres where this was done only upon request (75.3%, p 0.001). This was the same for centres stratifying patients according to the OLGA system (51.8 vs. 73.0%, p 0.001). More biopsies were taken in centres following the MAPS guidelines on stomach surveillance (68.1 vs. 37.1%, p 0.001). Biopsy s ling was more likely in younger patients in 8 centres (p 0.05), but this was not true for the whole cohort (p = 0.537). The percentage of procedures with biopsies correlated directly with additional costs charged in case of biopsies (r = 0.709, p = 0.022). Conclusion: Adherence to guideline recommendations for biopsy s ling at gastroscopy was inconsistent across the participating centres. Our data suggest that centre-specific policies are applied instead.
Start Date: 2020
End Date: 2023
Funder: FWF Austrian Science Fund
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