List of works - Marion Gauthier-Villars

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

scientific article

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

scientific article

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

scientific article published on 22 September 2021

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

scientific article

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

scientific article published on 9 November 2011

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020

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

scientific article published on 13 November 2019

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

scientific article published on 22 January 2015

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec

scientific article

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations ⬇️

scientific article published on January 26, 2011

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

scientific article published in June 2003

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

scientific article published on 15 April 2015

Clinical utility gene card for: retinoblastoma

scientific article published on 8 December 2010

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

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

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

scientific article published on 24 June 2015

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

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

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

scientific article published in July 2008

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

scientific article

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

scientific article published on 9 February 2016

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

Familial uveal melanoma: a report on two families and a review of the literature

scientific article

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

scientific article published on 22 August 2012

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific 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)

Genotype-phenotype correlations in hereditary familial retinoblastoma

scientific article published on 01 March 2007

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma ⬇️

scientific article published on 7 June 2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

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

scientific article

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

scientific article published on 23 March 2006

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

scientific article published on 01 December 2009

MDM2 as a modifier gene in retinoblastoma

scientific article published on 4 November 2010

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

scientific article

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

scientific article published on 30 August 2010

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011

Mutation analysis of PALB2 gene in French breast cancer families

article

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

scientific article published on 15 February 2018

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

scientific article published on 22 February 2018

Neonatal cancer.

scientific article published on December 2013

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

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

scientific article published on 29 June 2006

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

scientific article

Results of a multicenter prospective study on the postoperative treatment of unilateral retinoblastoma after primary enucleation

scientific article published on 4 March 2013

Retinoblastoma

2006 scientific article

Retinoblastoma: recent advances

scientific article

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

scientific article published on 26 May 2015

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

scientific article published on January 1, 2011

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

scientific article published on 01 October 2002

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

scientific article

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

scientific article published on 8 July 2008

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion

scientific article

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

[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

[Genetic predisposition and ovarian cancer]

scientific article published on 01 October 2004

[Genetic predisposition in children cancers in 2011]

scientific article published on 01 May 2011

List of works by Marion Gauthier-Villars

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

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

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

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

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

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

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

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec

Cancer Risks Associated With and Pathogenic Variants

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations ⬇️

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

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

Clinical utility gene card for: retinoblastoma

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

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

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

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

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

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

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

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

Familial uveal melanoma: a report on two families and a review of the literature

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

Genotype-phenotype correlations in hereditary familial retinoblastoma

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma ⬇️

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

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

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

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

MDM2 as a modifier gene in retinoblastoma

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

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

Mutation analysis of PALB2 gene in French breast cancer families

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

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

Neonatal cancer.

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

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

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

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

Results of a multicenter prospective study on the postoperative treatment of unilateral retinoblastoma after primary enucleation

Retinoblastoma

Retinoblastoma: recent advances

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

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

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

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion

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]

[Genetic predisposition and ovarian cancer]

[Genetic predisposition in children cancers in 2011]