Michel Longy
A5004491650- BRCA gene mutations in cancer
- PI3K/AKT/mTOR signaling in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Prenatal Screening and Diagnostics
- DNA Repair Mechanisms
- Ovarian cancer diagnosis and treatment
- Cancer Mechanisms and Therapy
- Polyamine Metabolism and Applications
- Cancer-related Molecular Pathways
- Breast Cancer Treatment Studies
- Chromatin Remodeling and Cancer
- Colorectal Cancer Screening and Detection
- Gene expression and cancer classification
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Plant Virus Research Studies
- Vascular Malformations and Hemangiomas
- Vascular Tumors and Angiosarcomas
- Infectious Diseases and Mycology
- Fungal Plant Pathogen Control
Institut Bergonié
2014-2024
Inserm
2013-2024
Bordeaux Population Health
2024
Université de Bordeaux
2011-2022
Target (United States)
2021
Institut Curie
2012
Sorbonne Paris Cité
2012
Université Paris Cité
2012
Centre Hospitalier Universitaire de Tours
2005
Laboratoire Vision Action Cognition
2005
Providing accurate estimates of cancer risks is a major challenge in the clinical management Lynch syndrome.To estimate age-specific cumulative developing various tumors using large series families with mutations MLH1, MSH2, and MSH6 genes.Families syndrome enrolled between January 1, 2006, December 31, 2009, from 40 French genetics clinics participating ERISCAM (Estimation des Risques de Cancer chez les porteurs mutation gènes MMR) study; 537 segregating mutated genes (248 MLH1; 256 MSH2;...
Abstract BRCA1 inactivation is a frequent event in basal-like breast carcinomas (BLC). However, can be inactivated by multiple mechanisms and determining its status not trivial issue. As an alternate approach, we profiled 65 BLC cases using single-nucleotide polymorphism arrays to define signature of BRCA1-associated genomic instability. Large-scale state transitions (LST), defined as chromosomal break between adjacent regions at least 10 Mb, were found robust indicator this setting. Two...
<h3>Background</h3> <i>PTEN</i> hamartoma tumour syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the suppressor gene, including Cowden which is characterised by an increased risk of breast and thyroid cancers. Because PHTS rare, data regarding cancer risks genotype–phenotype correlations are limited. The objective this study was to better define respect type location mutations. <h3>Methods</h3> 154 individuals a deleterious mutation were recruited from...
The current histoclinical breast cancer classification is simple but imprecise. Several molecular classifications of cancers based on expression profiling have been proposed as alternatives. However, their reliability and clinical utility repeatedly questioned, notably because most them were derived from relatively small initial patient populations. We analyzed the transcriptomes 537 tumors using three unsupervised methods. A core subset 355 was assigned to six clusters by all These...
Abstract Introduction Typical medullary breast carcinoma (MBC) has recently been recognized to be part of the basal-like spectrum, a feature in agreement with high rate TP53 mutations previously reported MBCs. The present study was therefore designed identify phenotypic and genetic alterations that distinguish MBCs from carcinomas (BLC). Methods Expression levels estrogen receptor (ER), progesterone (PR), ERBB2, TP53, cytokeratins (KRTs) 5/6, 14, 8/18, epidermal growth factor KIT, as well...
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for mutation carriers, we undertook a two-staged genome-wide association study in carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<40 years) affected and 804 unaffected carriers European ancestry. Associations evaluated survival-based...
Abstract BACKGROUND: The p53 and phosphoinositide‐3‐kinase, catalytic, alpha polypeptide/v‐akt murine thymoma viral oncogene homolog/mechanistic target of rapamycin (PIK3CA/AKT/mTOR) pathways frequently are altered in sarcoma with complex genomics, such as leiomyosarcoma (LMS) or undifferentiated pleomorphic (UPS). scale genetic abnormalities these remains unknown angiosarcoma (AS). METHODS: authors investigated the status critical genes involved PIK3CA/AKT/mTOR a series 62 AS. RESULTS:...
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify modifying loci carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using ranked P-values associations with imputed genotype 1.4 M SNPs, 19,029 SNPs were selected and designed inclusion on custom Illumina array that included...
Background Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus (CPT) or female breast cancers before age 31 multiple primary belonging to the Li-Fraumeni (LFS) spectrum is, independently familial history, highly suggestive a germline TP53 mutation. The aim this study was determine contribution de novo and mosaic mutations LFS. Methods results Among 328 unrelated patients harbouring mutation identified by Sanger sequencing and/or QMPSF, we could show that had...
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk breast, thyroid, renal cancer, and possibly endometrial colorectal cancer melanoma. There no international consensus on surveillance in PHTS all current guidelines are based expert opinion. A comprehensive literature review was undertaken were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology,...
Several chromosomal regions are found to be consistently amplified in human breast cancers. For two of these regions, 8p12 and 10q26, we previously reported the amplification genes encoding FGF receptors, FGFRI/FLG FGFR2/BEK, about 12% tumors. The PLAT gene, tissue-type plasminogen activator, is also located close or within region. In present study, show that both FGFRI can as well ovarian carcinomas. was detected 14.5% 7.8% tumors, whereas 15.6% 19.4% respectively. Each gene could...