Publications by authors named "C Populaire"
Article Synopsis
- The text discusses "extreme phenotypes" in oncogenetics, referring to patients with unusual cancer presentations, like early onset or multiple malignancies, where genetic predisposition is likely but often not detected through standard gene panels.
- The EXTRICAN project used exome sequencing on rare familial cases of male breast cancer and discovered a novel pathogenic variant linked to breast cancer susceptibility, along with three other significant variants in various early onset and familial breast cancer cases.
- The study highlights the importance of advanced genetic analysis techniques like exome sequencing to uncover rare variants that contribute to cancer risk in patients who don't fit the typical profiles detected by conventional testing methods.
With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing.
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- * A case study describes a 46-year-old woman who was diagnosed with two distinct types of bilateral breast cancer and who tested positive for mutations in both the BRCA1 and BRCA2 genes despite having no known Ashkenazi ancestry.
- * This case marks the first documented instance of a double heterozygosity for BRCA1 and BRCA2 mutations in a French patient with metastatic breast cancer, highlighting the rarity of such genetic anomalies.
Signalling through gap junctions contributes to control insulin secretion and, thus, blood glucose levels. Gap junctions of the insulin-producing β-cells are made of connexin 36 (Cx36), which is encoded by the GJD2 gene. Cx36-null mice feature alterations mimicking those observed in type 2 diabetes (T2D).
View Article and Find Full Text PDFRisk factors of postoperative vomiting in children receiving continuous intravenous morphine.
Minerva Anestesiol
February 2012
Background: Risk factors of postoperative vomiting (POV) have been less extensively explored in children compared to adults. We analyzed the risk factors of POV in children receiving continuous intravenous (i.v.
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