List of works - Pascaline Berthet

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

scientific article published on 10 September 2009

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

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

scientific article

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

scientific article published on July 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

scientific article

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.

scientific article

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

scientific article published on 01 February 2003

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

scientific article

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

scientific article published on 22 January 2015

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

scientific article published on 11 January 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

scientific article published on 15 April 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

scientific article

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.

scientific article published on 2 November 2011

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

scientific article

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

scientific article

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

scientific article published on 12 January 2016

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

scientific article published on 24 December 2020

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

scientific article (publication date: 2013)

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

scientific article published on 23 March 2006

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2019

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

scientific article published on 29 June 2006

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

scientific article published on 15 July 2020

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

scientific article published on June 2017

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

scientific article

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

scientific article published on 21 July 2017

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

scientific article published on 8 July 2008

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

scientific article published on March 2012

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).

scientific article published on 03 July 2012

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

scientific article published on 11 October 2013

List of works by Pascaline Berthet

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?