Lisa Golmard
A5003647839- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Ocular Oncology and Treatments
- Nutrition, Genetics, and Disease
- PARP inhibition in cancer therapy
- Congenital Diaphragmatic Hernia Studies
- Genetics, Bioinformatics, and Biomedical Research
- Ovarian cancer diagnosis and treatment
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Prostate Cancer Treatment and Research
- RNA and protein synthesis mechanisms
- Neonatal Respiratory Health Research
- RNA Research and Splicing
- Tracheal and airway disorders
- Genetic Associations and Epidemiology
- Genomics and Phylogenetic Studies
- Radiopharmaceutical Chemistry and Applications
- Genomics and Chromatin Dynamics
- Molecular Biology Techniques and Applications
Institut Curie
2016-2025
Université Paris Sciences et Lettres
2017-2023
Cleveland Clinic
2023
Inserm
2011-2022
Université Paris Dauphine-PSL
2022
Université Paris Cité
2011-2021
Hôpital Saint-Louis
2017
Hôpital Européen
2012-2015
Assistance Publique – Hôpitaux de Paris
2012-2015
Hôpital Européen Georges-Pompidou
2012-2015
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers pathogenic variants in RAD51C RAD51D.
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...
Abstract Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor developing retina. Little known on molecular basis underlying biological and clinical behavior of this cancer. Here, using multi-omics data, we demonstrate existence two retinoblastoma subtypes. Subtype 1, earlier onset, includes heritable forms. It harbors few genetic alterations other than initiating RB1 inactivation corresponds to differentiated tumors expressing...
Most currently known breast cancer predisposition genes play a role in DNA repair by homologous recombination. Recent studies conducted on RAD51 paralogs, involved the same pathway, have identified rare germline mutations conferring and/or ovarian RAD51C, RAD51D and XRCC2 genes. The present study analysed five paralogs (RAD51B, RAD51D, XRCC2, XRCC3) to estimate their contribution predisposition. was 142 unrelated patients with either early onset or breast/ovarian family history. Patients...
Therapeutic strategies targeting Homologous Recombination Deficiency (HRD) in breast cancer requires patient stratification. The LST (Large-scale State Transitions) genomic signature previously validated for triple-negative carcinomas (TNBC) was evaluated as biomarker of HRD luminal (hormone receptor positive) and HER2-overexpressing (HER2+) tumors. related to the number large-scale chromosomal breakpoints SNP-array tumor profile applied identify in-house TCGA sets tumors, which status...
Purpose: BRCA2 plays a central role in homologous recombination by loading RAD51 on DNA breaks. The objective of this study is to determine whether the location mutations RAD51-binding domain (RAD51-BD; exon 11) gene affects clinical outcome ovarian cancer patients.Experimental Design: A cohort 353 women with who underwent genetic germline testing for BRCA1 and genes was identified. Progression-free survival (PFS), platinum-free interval (PFI), overall (OS) were analyzed. Cancer Genome Atlas...
Abstract DICER1 syndrome is a rare genetic disorder that predisposes to wide spectrum of tumors. Developing surveillance protocols for this challenging because uncertainty exists about the clinical efficacy surveillance, and appraisal potential benefits harms vary. In addition, there increasing evidence germline pathogenic variants are associated with lower penetrance cancer than previously assumed. To address these issues harmonize programs within Europe, Host Genome Working Group European...
BRCA1 and BRCA2 are tumour suppressor genes that have been characterised as predisposition for the development of hereditary breast ovarian cancers among other malignancies. The molecular diagnosis this syndrome is based on detection inactivating variants any type in those genes. But case structural variants, functional consequences can be difficult to assess using standard methods, precise resolution their sequence often impossible with short-read next generation sequencing techniques. It...
Abstract Purpose: DROSHA, DGCR8, and DICER1 regulate microRNA biogenesis are commonly mutated in cancer. Whereas DGCR8 germline pathogenic variants (GPVs) cause autosomal dominant tumor predisposition, no association between DROSHA GPVs clinical phenotypes has been reported. Experimental Design: After obtaining informed consent, sequencing was performed on samples from all patients. The occurrence of investigated large pediatric adult cancer datasets. population prevalence the UK Biobank...
Background and Aim: Uveal melanoma (UM) is the most common intraocular malignancy in adults. Thus far, germline mutations of two genes have been identified to be predisposing UM with a high penetrance: BAP1, responsible for BAP1 tumor predisposition syndrome (BAP1-TPDS), MBD4, which alterations are associated predisposition, specific mutational signature response immunotherapy. However, only fraction familial bilateral/multifocal forms can explained by these alterations, suggesting existence...
Abstract Breast cancer is the most prevalent malignancy in women Western countries, currently accounting for one third of all female cancers. Familial aggregation thought to account 5–10 % BC cases, and germline mutations BRCA1 BRCA2 less half these inherited cases. In Lebanon, breast represents principal death-causing among women, with 50 cases diagnosed before age years. order study BRCA1/2 mutation spectra Lebanese population, 72 unrelated patients a reported family history and/or ovarian...