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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
TLDR
Retrovirus vector insertion can trigger deregulated premalignant cell proliferation with unexpected frequency, most likely driven by retrovirus enhancer activity on the LMO2 gene promoter.
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
TLDR
To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status.
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
TLDR
The clinical gradient of the germline TP53 mutations, which should be validated by other studies, suggests that it might be appropriate to stratify the clinical management of LFS according to the class of the mutation.
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
TLDR
The complete coding sequence and exonic structure of BRCA2 is determined, and its pattern of expression is examined, and a mutational analysis of B RCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer is reported.
Protein interaction mapping: a Drosophila case study.
TLDR
This work used a high-throughput yeast two-hybrid (Y2H)-based technology to screen 102 bait proteins from Drosophila melanogaster, most of them orthologous to human cancer-related and/or signaling proteins, against high-complexity fly cDNA libraries.
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation.
TLDR
The genomic signature defined predicted BRCA1/2 inactivation in BLCs with 100% sensitivity and 90% specificity (97% accuracy) may ease the challenge of selecting patients for genetic testing or recruitment to clinical trials of novel emerging therapies that target DNA repair deficiencies in cancer.
2009 version of the Chompret criteria for Li Fraumeni syndrome.
TLDR
In 474 Frenchfamiliessuggestive familiesful of LFS, the Chompret criteria was applied, obtaining a mutation detection rate of 29% and estimated the sensitivity and sensitivity of the criteria to be 82% and 58%, respectively.
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.
TLDR
Key features of the histologic phenotypes of breast cancers in carriers of mutant BRCA1 and BRCa2 genes are identified and this information may improve the classification of breast cancer in individuals with a family history of the disease and may ultimately aid in the clinical management of patients.
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.
TLDR
This is the first study challenging the NMD rules, which have been established through the study of minigenes, by analysing a large series of mutant endogenous alleles and hypothesize that reinitiation could explain why transcripts carrying early PTCs escape NMD.
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
TLDR
Pathologic characteristics of BRCA1 and BRCa2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
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