Publications by authors named "Julie Robbe"

Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional mismatch repair deficiency (CMMRD). The European consortium "Care for CMMRD" (C4CMMRD) was founded in Paris in 2013 to facilitate international collaboration and improve our knowledge of this rare cancer predisposition syndrome. Following initial publications on diagnostic criteria and surveillance guidelines for CMMRD, several partners collaborating within the C4CMMRD consortium have worked on and published numerous CMMRD-related clinical and biological projects.

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The association of a germline mutation in the BRCA1/2 genes in breast cancer leads to a higher genomic instability and, thus, a potential higher sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. In this review, we will summarize the different DNA-repair pathways including PARP-dependent mechanisms that support the use of PARP inhibitors. We will present clinical trials evaluating PARP inhibitors alone or in combination in early or advanced stage breast cancer.

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Article Synopsis
  • Kabuki syndrome (KS) is a rare genetic disorder marked by distinctive facial features, intellectual disability, and various physical malformations.
  • In a study involving 177 individuals with KS, significant percentages displayed immunopathological issues: 44.1% had infection susceptibility, 58.2% had low immunoglobulin levels, and there were notable occurrences of autoimmune diseases.
  • The findings underscore the critical need for regular screening and preventive care for these potentially serious health issues in KS patients.
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