0000000000595860

AUTHOR

Emilie Degrolard-courcet

showing 2 related works from this author

Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations.

2021

Primary triple-negative invasive lobular breast carcinomas (TN-ILCs), which do not express hormone receptors and HER2 at diagnosis, are rare and poorly known. In this study, we analyzed the largest TN-ILC series ever reported in the literature, in comparison to phenotypically similar breast tumor subtypes: triple-negative invasive ductal carcinoma (TN-IDC) and hormone receptor-positive invasive lobular carcinoma (HR + ILC). All primary TN-ILCs registered in our database between 2000 and 2018 (n = 38) were compared to tumors from control groups, matched by stage and Elston/Ellis grade, with regard to clinical, pathologic, and immunohistochemical characteristics. A comparative molecular analy…

0301 basic medicineOncologyAdultmedicine.medical_specialtyPathologyReceptor ErbB-2Lobular carcinomaDNA Mutational AnalysisTriple Negative Breast NeoplasmsArticlePathology and Forensic Medicine03 medical and health sciencesBasal (phylogenetics)Phosphatidylinositol 3-Kinases0302 clinical medicineBreast cancerInternal medicinemedicineCarcinomaHumansskin and connective tissue diseasesSurvival analysisAgedAged 80 and overbusiness.industryMiddle Agedmedicine.diseaseAndrogen receptorbody regionsCarcinoma Lobular030104 developmental biologyPleomorphism (cytology)Receptors EstrogenReceptors Androgen030220 oncology & carcinogenesisInvasive lobular carcinomaMutationFemalebusinessModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

2013

International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…

AdultBiallelic MutationRNA Splicing[SDV]Life Sciences [q-bio]DNA Mutational AnalysisBiologymedicine.disease_causeArticleFrameshift mutationGeneticsmedicineHumansMissense mutationAge of OnsetGeneAllelesGenetics (clinical)BRCA2 ProteinGeneticsMutationPoint mutationComputational BiologyChromosome BreakageBRCA2 ProteinPedigree3. Good healthAmino Acid SubstitutionMutationFemaleRNA Splice SitesChromosome breakageColorectal NeoplasmsEuropean Journal of Human Genetics
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