Claire Josse
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View article: Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery
Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery Open
Biomarker signature discovery remains the main path to developing clinical diagnostic tools when the biological knowledge on pathology is weak. Shortest signatures are often preferred to reduce the cost of the diagnostic. The ability to fi…
View article: Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes
Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes Open
Epithelial–mesenchymal transition (EMT) and tumor‐infiltrating lymphocytes (TILs) play a central role in early‐stage breast cancer (BC) and are associated with chemoresistance, stemness, and invasion. The objective of this study was two fo…
View article: Targeting ferroptosis resistance resensitizes metastatic HR<sup>+</sup>HER2<sup>−</sup> breast cancer cells to palbociclib‐hormone therapy
Targeting ferroptosis resistance resensitizes metastatic HR<sup>+</sup>HER2<sup>−</sup> breast cancer cells to palbociclib‐hormone therapy Open
peer reviewed
View article: Genetic evaluation of patients with multiple primary cancers
Genetic evaluation of patients with multiple primary cancers Open
Regarding inherited cancer predisposition, single gene carriers of pathogenic variants (PVs) have been extensively reported on in the literature, whereas the oligogenic coinheritance of heterozygous PVs in cancer-related genes is a poorly …
View article: Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients
Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients Open
Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patien…
View article: 296P Identification of metabolism-related therapeutic targets to improve response to neoadjuvant chemotherapy in early breast cancers
296P Identification of metabolism-related therapeutic targets to improve response to neoadjuvant chemotherapy in early breast cancers Open
View article: Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery
Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery Open
Biomarker signature discovery remains the main path to develop clinical diagnostic tools when the biological knowledge on a pathology is weak. Shortest signatures are often preferred to reduce the cost of the diagnostic. The ability to fin…
View article: Coinheritance of pathogenic variants in ATM and BRCA2 in families with multiple cancers: a case series
Coinheritance of pathogenic variants in ATM and BRCA2 in families with multiple cancers: a case series Open
Purpose. Pathogenic variants (PVs) in BRCA2 and ATM genes have been linked to an increased risk of various cancers. BRCA2 and ATM are part of the homologous recombination pathway, but the tumor risk in patients with simultaneous PVs in bot…
View article: Deeper insights into long-term survival heterogeneity of pancreatic ductal adenocarcinoma (PDAC) patients using integrative individual- and group-level transcriptome network analyses
Deeper insights into long-term survival heterogeneity of pancreatic ductal adenocarcinoma (PDAC) patients using integrative individual- and group-level transcriptome network analyses Open
View article: Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants
Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants Open
Objective The link between BRCA1 and homologous recombination deficiency (HRD) in cancer has gained importance with the emergence of new targeted cancer treatments, while the available data on the role of the gene in colorectal cancer (CRC…
View article: Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy Open
Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regu…
View article: Immunity and Breast Cancer: Focus on Eosinophils
Immunity and Breast Cancer: Focus on Eosinophils Open
The role of eosinophils, a cell type involved in the immune response to parasitic infections and allergies, has been investigated in different cancer types, in both tumor tissue and at the circulating level. Most studies showed a role main…
View article: Differences in plasma microRNA content impair microRNA-based signature for breast cancer diagnosis in cohorts recruited from heterogeneous environmental sites
Differences in plasma microRNA content impair microRNA-based signature for breast cancer diagnosis in cohorts recruited from heterogeneous environmental sites Open
Circulating microRNAs are non-invasive biomarkers that can be used for breast cancer diagnosis. However, differences in cancer tissue microRNA expression are observed in populations with different genetic/environmental backgrounds. This wo…
View article: High plasmatic levels of IL-4 and IL- 13 are associated with recurrence and worse survival in breast cancer
High plasmatic levels of IL-4 and IL- 13 are associated with recurrence and worse survival in breast cancer Open
peer reviewed
View article: Screening of germline mutations in young Rwandan patients with breast cancers
Screening of germline mutations in young Rwandan patients with breast cancers Open
Background In Sub‐Saharan Africa breast cancer is commonly detected at younger age and the profile is more aggressive with a high mortality rate compared to the European countries. It is suggested that African‐specific genetic background p…
View article: Prevalence of Histological Characteristics of Breast Cancer in Rwanda in Relation to Age and Tumor Stages
Prevalence of Histological Characteristics of Breast Cancer in Rwanda in Relation to Age and Tumor Stages Open
View article: Deeper insights into long-term survival heterogeneity of Pancreatic Ductal Adenocarcinoma (PDAC) patients using integrative individual- and group-level transcriptome network analyses
Deeper insights into long-term survival heterogeneity of Pancreatic Ductal Adenocarcinoma (PDAC) patients using integrative individual- and group-level transcriptome network analyses Open
Summary Background Pancreatic ductal adenocarcinoma (PDAC) is categorized as the seventh leading cause of cancer mortality worldwide. Its predictive markers for long-term survival are not well known. Therefore, it is interesting to delinea…
View article: <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome
<span><i>GREB1L</i></span> variants in familial and sporadic hereditary urogenital adysplasia and <span>Mayer‐Rokitansky‐Kuster‐Hauser</span> syndrome Open
Congenital uterine anomalies (CUA) may have major impacts on the health and social well‐being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally …
View article: Blood eosinophilic relative count is prognostic for breast cancer and associated with the presence of tumor at diagnosis and at time of relapse
Blood eosinophilic relative count is prognostic for breast cancer and associated with the presence of tumor at diagnosis and at time of relapse Open
REC could be a new promising, affordable and accessible predictive and prognostic biomarker in all breast cancer subtypes.
View article: Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy
Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy Open
View article: Tryptophan catabolism differentiates breast cancer patients from healthy controls but does not predict outcome
Tryptophan catabolism differentiates breast cancer patients from healthy controls but does not predict outcome Open
View article: Role of DNA methylation in INK4a-ARF-INK4b locus expression in breast cancer
Role of DNA methylation in INK4a-ARF-INK4b locus expression in breast cancer Open
View article: Primary sarcoma of the breast in the young Rwandan females
Primary sarcoma of the breast in the young Rwandan females Open
peer reviewed
View article: Predictive and prognostic role of peripheral blood eosinophil count in triple-negative and hormone receptor-negative/HER2-positive breast cancer patients undergoing neoadjuvant treatment
Predictive and prognostic role of peripheral blood eosinophil count in triple-negative and hormone receptor-negative/HER2-positive breast cancer patients undergoing neoadjuvant treatment Open
In current clinical practices, up to 27% of all breast cancer patients receive neoadjuvant chemotherapy. High pathological complete response rate is frequently associated with tumor-infiltrating lymphocytes. Additionally, circulating immun…
View article: Innovative methodology for the identification of soluble biomarkers in fresh tissues
Innovative methodology for the identification of soluble biomarkers in fresh tissues Open
The identification of diagnostic and prognostic biomarkers from early lesions, measurable in liquid biopsies remains a major challenge, particularly in oncology. Fresh human material of high quality is required for biomarker discovery but …
View article: Variations of circulating cardiac biomarkers during and after anthracycline-containing chemotherapy in breast cancer patients
Variations of circulating cardiac biomarkers during and after anthracycline-containing chemotherapy in breast cancer patients Open
View article: Natural Antisense Transcripts: Molecular Mechanisms and Implications in Breast Cancers
Natural Antisense Transcripts: Molecular Mechanisms and Implications in Breast Cancers Open
Natural antisense transcripts are RNA sequences that can be transcribed from both DNA strands at the same locus but in the opposite direction from the gene transcript. Because strand-specific high-throughput sequencing of the antisense tra…
View article: Additional file 1: of Variations of circulating cardiac biomarkers during and after anthracycline-containing chemotherapy in breast cancer patients
Additional file 1: of Variations of circulating cardiac biomarkers during and after anthracycline-containing chemotherapy in breast cancer patients Open
Statistical analyses. (A) Correlations Spearman tests between the fold change of cTnT, NT-proBNP, sST2, miR-126-3p, miR-199a-3p, miR-423-5p and miR-34a-5p at different time point of the neoadjuvant chemotherapy in 45 breast cancer patients…
View article: A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases Open
The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted D…
View article: Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer
Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer Open