Lista de obras -

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

artículo científico publicado en 2007

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

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

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

artículo científico publicado en 2003

BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

article

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

artículo científico publicado en 2015

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2011

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2013

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

artículo científico publicado en 2006

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Mutation analysis of PALB2 gene in French breast cancer families

article

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

artículo científico publicado en 2007

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing

artículo científico publicado en 2019

Patients' characteristics and rate of Internet use to obtain cancer information

artículo científico publicado en 2006

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

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

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

artículo científico publicado en 2008

Uptake of a randomized breast cancer prevention trial comparing letrozole to placebo in BRCA1/2 mutations carriers: the LIBER trial

artículo científico

Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France

scientific article published on 17 July 2019

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

Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?

artículo científico publicado en 2013

Lista de obras de

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

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

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

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

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.

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

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

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

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

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

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

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

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

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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

Mutation analysis of PALB2 gene in French breast cancer families

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing

Patients' characteristics and rate of Internet use to obtain cancer information

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

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

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

Uptake of a randomized breast cancer prevention trial comparing letrozole to placebo in BRCA1/2 mutations carriers: the LIBER trial

Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France

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).

Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?