Serge Nolet
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View article: Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer
Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer Open
View article: MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate
MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate Open
Background: Pheochromocytomas (PHEOs) and paragangliomas (PGLs) (PPGLs) are rare tumors with a high heritability. The prevalence of germline mutations in sporadic PPGLs varies depending of series. Objective: To determine the prevalence and…
View article: SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS)
SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS) Open
Recent guidelines on adrenal incidentalomas suggested that patients with an indeterminate adrenal mass on imaging choosing not to undergo adrenalectomy to repeat imaging with either unenhanced computed tomography (CT) or Magnetic resonance…
View article: A <i>SDHC</i> Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the <i>SDHC</i>-Related PGL
A <i>SDHC</i> Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the <i>SDHC</i>-Related PGL Open
We found that 31% of the PGLs in the French Canadian can be explained by the SDHC mutation (c.397C>T, p.[Arg133Ter]). The dominance of the SDHC mutation is unique to the FCs and is most likely due to a French founder effect. SDHC gene anal…
View article: First case report of an adrenocortical carcinoma caused by a BRCA2 mutation
First case report of an adrenocortical carcinoma caused by a BRCA2 mutation Open
This is the first reported case of a patient with ACC associated with a BRCA2 germline mutation. Loss of heterozygosity in ACC DNA suggests a causal link with the BRCA2 8765delAG mutation.
View article: ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia
ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia Open
Background Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS) and its familial clustering has been described previously. Recent studies identified that ARMC5 mutations occur frequently in BMAH, but…