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List of works by Dominique Stoppa-Lyonnet

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LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

scientific article (publication date: 17 October 2003)
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

scientific article published on March 1996
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017
Protein interaction mapping: a Drosophila case study

scientific article published on 14 February 2005
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

scientific article published in August 1998
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation

scientific article
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group

scientific article
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

scientific article
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)
Germline BAP1 mutations predispose to renal cell carcinomas

scientific article published on 16 May 2013
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

scientific article published on 26 May 2015
Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

scientific article
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

scientific article published on 01 November 2002
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

scientific article published on 28 October 2005
Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015
2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

scientific article published on 10 September 2009
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

scientific article
Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008
Sensitivity and predictive value of criteria for p53 germline mutation screening

scientific article published on January 2001
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article
High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors

scientific article published on January 2009
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

scientific article
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

scientific article published in February 1996
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

scientific article
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

scientific article published on 01 December 1999
Familial invasive breast cancers: worse outcome related to BRCA1 mutations

scientific article published on 01 December 2000
Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity

scientific article published on January 2007
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

scientific article
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2013
Biallelic inactivation of REV7 is associated with Fanconi anemia

scientific article published on 8 August 2016
Rapid progression of prostate cancer in men with a BRCA2 mutation

scientific article published on 24 June 2008
A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

scientific article published on 14 May 2009
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

scientific article published in January 1999
The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

scientific article published on 01 March 2000
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

scientific article
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

scientific article published on 16 February 2011
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies

scientific article published on 08 December 2014
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

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