A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
So far, no common environmental and/or phenotypic factor has been associated with
melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun …
melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun …
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
…, C Lasset, C Houdayer, D Leroux, E Rouleau… - PLoS …, 2013 - journals.plos.org
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
…, A Remenieras, F Révillion, E Rouleau… - Human …, 2012 - Wiley Online Library
Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in
molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation …
molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation …
Down‐regulation of BRCA1 expression by miR‐146a and miR‐146b‐5p in triple negative sporadic breast cancers
…, P Bertrand, R Rimokh, E Rouleau… - EMBO molecular …, 2011 - embopress.org
Germ‐line mutations in the BRCA1 gene strongly predispose women to breast cancer (lifetime
risk up to 80%). Furthermore, the BRCA1 protein is absent or present at very low levels in …
risk up to 80%). Furthermore, the BRCA1 protein is absent or present at very low levels in …
[HTML][HTML] Implementing TMB measurement in clinical practice: considerations on assay requirements
…, S Merkelbach-Bruse, N Normanno, E Rouleau… - ESMO open, 2019 - Elsevier
Clinical evidence demonstrates that treatment with immune checkpoint inhibitor immunotherapy
agents can have considerable benefit across multiple tumours. However, there is a …
agents can have considerable benefit across multiple tumours. However, there is a …
[HTML][HTML] Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all …
…, C Callens, I Bieche, A Saliou, J Madic, E Rouleau… - Molecular …, 2015 - Elsevier
Cell-free tumor DNA (ctDNA) has the potential to enable non-invasive diagnostic tests for
personalized medicine in providing similar molecular information as that derived from invasive …
personalized medicine in providing similar molecular information as that derived from invasive …
Genomics to select treatment for patients with metastatic breast cancer
…, P Barthelemy, B You, N Hajjaji, L Lacroix, E Rouleau… - Nature, 2022 - nature.com
Cancer progression is driven in part by genomic alterations 1 . The genomic characterization
of cancers has shown interpatient heterogeneity regarding driver alterations 2 , leading to …
of cancers has shown interpatient heterogeneity regarding driver alterations 2 , leading to …
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
…, L Faivre, C Loustalot, T Noguchi, H Sobol, E Rouleau… - Cancer research, 2010 - AACR
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,
LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation …
LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation …
Guidance for laboratories performing molecular pathology for cancer patients
…, N Normanno, A Edsjö, E Rouleau… - Journal of clinical …, 2014 - jcp.bmj.com
Molecular testing is becoming an important part of the diagnosis of any patient with cancer.
The challenge to laboratories is to meet this need, using reliable methods and processes to …
The challenge to laboratories is to meet this need, using reliable methods and processes to …
Durvalumab compared to maintenance chemotherapy in metastatic breast cancer: the randomized phase II SAFIR02-BREAST IMMUNO trial
…, JM Ferrero, A Mege, F Del Piano, E Rouleau… - Nature Medicine, 2021 - nature.com
The impact of single-agent antibodies against programmed death-ligand 1 (PD-L1) as
maintenance therapy is unknown in patients with metastatic breast cancer. The SAFIR02-BREAST …
maintenance therapy is unknown in patients with metastatic breast cancer. The SAFIR02-BREAST …