Publications by authors named "Mathis Lepage"
Article Synopsis
- Skeletal dysplasia, a group of disorders impacting bone development and growth in children, involves potentially up to 552 genes, with common mutations identified in specific genes related to conditions like achondroplasia and hypochondroplasia.
- A unique case of a Caucasian adult exhibiting achondroplasia symptoms was studied, revealing an intronic variant that changes FGFR3 function, although no common pathogenic variants were found.
- The study emphasizes the need to refine diagnostic methods and include certain intronic variants in routine tests for better detection of causal mutations, which can enhance patient management and inform new therapeutic strategies.
Hereditary predisposition to cancer affects about 3-5% of renal cancers. Testing criteria have been proposed in France for genetic testing of non-syndromic renal cancer. Our study explores the detection rates associated with our testing criteria.
View Article and Find Full Text PDFGermline pathogenic variants in E-cadherin () confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in carriers has been recently reassessed (from 40-83% by age 80 to 25-42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC, the International Gastric Cancer Linkage Consortium recommendation is not straightforward: prophylactic gastrectomy or endoscopic surveillance should be proposed for these families.
View Article and Find Full Text PDFBackground: PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has been found in a few cases of patients with de novo PHTS, identified from blood samples.
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- - The 10q26 subtelomeric microdeletion syndrome is a rare condition with diverse clinical symptoms, and the connections between specific genes and the resulting physical and cognitive traits remain ambiguous.
- - This study describes two cases of a significant 860 kb deletion in the 10q26.2 region found in a fetus with growth issues and his mother, involving symptoms like distinctive facial features, club feet, and mild intellectual disabilities.
- - It identifies the smallest deletion of this kind to date, suggesting that the genes DOCK1, INSYN2, and NPS may play crucial roles in the syndrome’s symptoms, with DOCK1 being the primary candidate for further investigation.
Hereditary predisposition to cancer concerns between 5% and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer syndrome) were identified in the 1990s. Exploration of their functional pathways then identified novel genes for hereditary predisposition to cancer, and candidate genes whose involvement remains unclear.
View Article and Find Full Text PDFHigh-throughput sequencing analysis represented both a medical diagnosis and technological revolution. Gene panel analysis is now routinely performed in the exploration of hereditary predisposition to cancer, which is becoming increasingly heterogeneous, both clinically and molecularly. We present 1530 patients with suspicion of hereditary predisposition to cancer, for which two types of analyses were performed: a) oriented according to the clinical presentation (n = 417), or b) extended to genes involved in hereditary predisposition to adult cancer (n = 1113).
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