Lista de obras -

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

artículo científico publicado en 2015

Cancer Risks Associated With and Pathogenic Variants

artículo científico publicado en 2022

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

artículo científico publicado en 2015

Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study

artículo científico publicado en 2017

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

artículo científico publicado en 2011

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

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

scientific article published on 05 August 2009

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

artículo científico publicado en 2017

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

article

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

GENESIS: a French national resource to study the missing heritability of breast cancer

artículo científico publicado en 2016

Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

artículo científico publicado en 2020

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

scientific article published on 29 May 2015

Hereditary forms of ovarian cancer ⬇️

artículo científico publicado el 1 de abril de 2012

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

artículo científico publicado en 2009

Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies ⬇️

artículo científico publicado el 1 de diciembre de 2009

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

artículo científico publicado en 2018

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study

artículo científico publicado en 2016

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers

scientific article published on 09 January 2019

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

artículo científico publicado en 2017

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

artículo científico publicado en 2015

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

artículo científico publicado en 2017

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

artículo científico publicado en 2012

[Constitutional MMR deficiency: Genetic bases and clinical implications]

scientific article published on 11 December 2018

[Environmental and genetic risk factors for endometrial carcinoma]

scientific article published on 26 February 2015

Lista de obras de

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

Cancer Risks Associated With and Pathogenic Variants

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

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

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

GENESIS: a French national resource to study the missing heritability of breast cancer

Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

Hereditary forms of ovarian cancer ⬇️

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies ⬇️

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

[Constitutional MMR deficiency: Genetic bases and clinical implications]

[Environmental and genetic risk factors for endometrial carcinoma]