Publications by authors named "J L Mauillon"
Am J Med Genet A
September 2024
Article Synopsis
- * A case study highlights a 30-year-old man who has JPS, characterized by multiple polyps, colon cancer, and persistent nosebleeds, and has a mosaic variant of the SMAD4 gene associated with his symptoms.
- * The findings suggest that mosaic mutations of SMAD4 might be a common cause for some cases of JPS, which often go undiagnosed, emphasizing the need for detailed genetic testing to identify these difficult-to-detect mutations.
Pancreatology
January 2023
Article Synopsis
- Variants in the PRSS1 and PRSS2 genes are linked to chronic pancreatitis (CP), prompting research into whether a deletion variant affecting two trypsinogen pseudogenes (PRSS3P2 and TRY7) might influence CP risk.
- A study analyzed this deletion in over 4,000 participants from different countries and found that it is associated with a protective effect against CP, especially in French, German, and Japanese populations.
- The research suggests that the deletion enhances the function of remaining genes, leading to regulated PRSS2 expression, which could be crucial in understanding CP susceptibility.
Article Synopsis
- Biallelic pathogenic variants in the NTHL1 gene are linked to a hereditary cancer syndrome, increasing risks for adenomatous polyposis and colorectal cancer, as well as other tumors like breast and brain cancers.
- The study, using data from the French oncogenetic consortium, describes 10 patients with these variants, identifying them as the second-largest series on NTHL1, all of whom showed signs of adenomatous polyps.
- The findings suggest that testing for NTHL1 should be included in diagnostic panels for hereditary cancers, with recommendations for colon and extra-colonic cancer surveillance based on existing guidelines.
Eur J Hum Genet
November 2018
Article Synopsis
- 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.
Article Synopsis
- Constitutional epimutations offer an alternative explanation to genetic mutations as a cause of genetic diseases, with some being linked to heritable epigenetic changes in Lynch syndrome families.
- A long-range PCR next-generation sequencing method was implemented to examine the MLH1 gene in various families, successfully identifying new variants and a significant insertion in one family.
- This study represents the largest group of patients with MLH1 secondary epimutations and sheds light on the complex molecular mechanisms behind these epigenetic changes.
