Publications by authors named "C A Sawka"
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).
View Article and Find Full Text PDFIntroduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In certain situations, genetic counselling in particular, a physical exam is not required.
View Article and Find Full Text PDFIntroduction: With the emergence of targeted therapies, there is a need to accurately identify more tumor biomarkers. The EXOMA trial was designed to offer tumor and germline exome sequencing (ES) to patients with solid malignant tumors and facing therapeutic failure. As hereditary cancer predispositions could be identified, with genetic counseling and health management implications, a genetic consultation was systematically established.
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- 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.
Background: Whether left ventricular non-compaction (LVNC) bears a different prognosis than dilated cardiomyopathy (DCM) is still a matter of debate.
Methods: From a multicenter French prospective registry, we compared the outcomes of 98 patients with LVNC and 65 with DCM. The primary endpoint combined cardiovascular death, heart transplantation, and hospitalization for cardiovascular events.