V. Bonadona

发表

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing

Qing Wang, Valérie Bonadona, J. Saurin, 2006, Human mutation.

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

Mads Thomassen, Etienne Rouleau, Dieter Niederacher, 2010, Cancer research.

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

C. Bonaïti‐pellié, D. Stoppa-Lyonnet, T. Frebourg, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies

A. Fabre, L. Faivre, H. Sobol, 2016, Annals of Hematology.

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

I. de Mascarel, G. MacGrogan, R. Iggo, 2010, Breast Cancer Research.

IV.4 Iatrogenic risks of endometrial carcinoma after treatment for breast cancer in a large French case—Control study

C. Lasset, V. Bonadona, H. Mignotte, 1998 .

Intensity‐dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles

Z. Herceg, J. Saurin, A. Puisieux, 2011, Genes, chromosomes & cancer.

Immune checkpoint inhibitor sensitivity of DNA repair deficient tumors.

C. Coutzac, V. Bonadona, M. Sarabi, 2021, Immunotherapy.

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

D. Stoppa-Lyonnet, P. Pujol, J. Fricker, 2015, Cancer Epidemiology, Biomarkers & Prevention.

Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

G. Lenoir, O. Sinilnikova, C. Lasset, 2002, Journal of the National Cancer Institute.

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

P. Chappuis, R. Lidereau, D. Stoppa-Lyonnet, 2006, Journal of Medical Genetics.

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

Valérie Bonadona, Dominique Stoppa-Lyonnet, D. Stoppa-Lyonnet, 2006, Journal of public health.

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.

J. Hopper, E. John, M. Southey, 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Iatrogenic risks of endometrial carcinoma after treatment for breast cancer in a large French case‐control study

C. Granon, L. Mauriac, F. Chauvin, 1998, International journal of cancer.

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

J. Fricker, J. Mancini, E. Mouret‐Fourme, 2011, European Journal of Human Genetics.

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

M. Bihoreau, N. Servant, D. Stoppa-Lyonnet, 2018, International journal of cancer.

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

W. Chung, R. Eeles, J. Hopper, 2018, JNCI cancer spectrum.

Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer

A. Calender, M. Léoné, V. Bonadona, 2021, Genes.

New founder germline mutations of CDKN2A in melanoma‐prone families and multiple primary melanoma development in a patient receiving levodopa treatment

L. Thomas, G. Lenoir, A. Chompret, 2007, Genes, chromosomes & cancer.

Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis.

Aung Ko Win, J. Mathews, Y. Drouet, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

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

P. Laurent-Puig, J. Duffour, J. Saurin, 2015, European Journal of Human Genetics.

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

W. Chung, J. Benítez, R. Eeles, 2020, Breast Cancer Research.

Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort.

N. Voirin, G. Lenoir, O. Sinilnikova, 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Endometrial carcinoma (EC) in women with breast cancer (BC)

C. Granon, L. Mauriac, F. Chauvin, 1997 .

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

Wei Lu, Wei Zheng, Mads Thomassen, 2013, Nature Genetics.

Tamoxifen and risk of endometrial cancer

C. Lasset, V. Bonadona, A. Brémond, 2001, The Lancet.

Risk of endometrial cancer in premenopausal women on tamoxifen

F. Chauvin, C. Lasset, V. Bonadona, 1998, The Lancet.

MUTYH-associated polyposis: review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa).

J. Saurin, Y. Bignon, B. Buecher, 2020, European journal of medical genetics.

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

F. Révillion, Chloé-Agathe Azencott, N. Sevenet, 2020, BMC Medical Research Methodology.

Correlation between clinical response to interleukin 2 and HLA phenotypes in patients with metastatic renal cell carcinoma.

J. Blay, C. Bain, M. Favrot, 1997, British Journal of Cancer.

Molecular study of CEPBA in familial hematological malignancies

L. Huiart, L. Demange, L. Faivre, 2009, Familial Cancer.

First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

Y. Drouet, D. Stoppa-Lyonnet, B. Buecher, 2022, Journal of Medical Genetics.

Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial

J. Blay, A. Viari, I. Treilleux, 2022, Journal of personalized medicine.

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Edith Le Floch, P. Guénel, T. Truong, 2022, European journal of cancer.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes

P. Chappuis, I. Treilleux, O. Trédan, 2020, Scientific Reports.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

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

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

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

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

BRCA1/BRCA2 germline mutations and chemotherapy-related hematological toxicity in breast cancer patients

P. Chappuis, O. Trédan, A. Friedlaender, 2019, Breast Cancer Research and Treatment.

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer

P. Chappuis, P. Meraldi, M. Stern, 2017, Clinical Cancer Research.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract.

B. Buecher, C. Lasset, P. Berthet, 2020, European journal of medical genetics.

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

E. Barillot, P. Guénel, T. Truong, 2020, International journal of cancer.

Familial hematological malignancies: ASXL1 gene investigation

L. Faivre, H. Sobol, C. Dugast, 2016, Clinical and Translational Oncology.

Mutation analysis of PALB2 gene in French breast cancer families

D. Stoppa-Lyonnet, O. Sinilnikova, S. Mazoyer, 2015, Breast Cancer Research and Treatment.

Molecular study of the perforin gene in familial hematological malignancies

L. Huiart, L. Demange, L. Faivre, 2011, Hereditary cancer in clinical practice.

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.

F. Couch, O. Olopade, T. Rebbeck, 2007, American journal of human genetics.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

W. Chung, D. Steinemann, F. Couch, 2019, British Journal of Cancer.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Laetitia Huiart, Dominique Leroux, Bernard Bonaïti, 2011, JAMA.

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

D. Stoppa-Lyonnet, S. Mazoyer, F. Damiola, 2021, Breast cancer research : BCR.

Contribution of BRCA1 and BRCA2 germ‐line mutations to the incidence of breast cancer in young women: Results from a prospective population‐based study in France

D. Easton, A. Antoniou, G. Lenoir, 2005, Genes, chromosomes & cancer.

[Inherited predisposition to breast cancer: after the BRCA1 and BRCA2 genes, what next?].

C. Lasset, V. Bonadona, 2003, Bulletin du cancer.

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

P. Hall, V. Pankratz, F. Couch, 2017 .

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

Germline BAP1 mutations predispose to renal cell carcinomas.

G. Gyapay, E. Barillot, S. Richard, 2013, American journal of human genetics.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review

N. Voirin, G. Lenoir, I. Treilleux, 2006, Breast Cancer Research and Treatment.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

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)

R. Lidereau, D. Stoppa-Lyonnet, P. Pujol, 2012, Breast Cancer Research.

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families

P. Chappuis, R. Lidereau, D. Stoppa-Lyonnet, 2004, Cancer Research.

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1/2 carrier cohort (GENEPSO).

R. Lidereau, D. Stoppa-Lyonnet, P. Pujol, 2018 .

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

D. Stoppa-Lyonnet, S. Mazoyer, C. Houdayer, 2018, Front. Oncol..

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

D. Stoppa-Lyonnet, O. Sinilnikova, S. Mazoyer, 2016, BMC Cancer.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.

L. Faivre, H. Sobol, C. Dugast, 2021, Bulletin du cancer.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

Germline BAP1 mutations predispose also to multiple basal cell carcinomas

B. Bressac-de Paillerets, N. Soufir, P. Combemale, 2015, Clinical genetics.

Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.

I. Ray-Coquard, O. Trédan, E. Kalbacher, 2019, Gynecologic oncology.

Predictive factors for prolonged response to olaparib as maintenance therapy in ovarian cancer patients with BRCA mutations.

I. Ray-Coquard, O. Trédan, E. Kalbacher, 2018 .

Publisher Correction: Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes

P. Chappuis, I. Treilleux, O. Trédan, 2020, Scientific Reports.

GATA2 gene analysis in several forms of hematological malignancies including familial aggregations

L. Faivre, H. Sobol, C. Dugast, 2017, Annals of Hematology.

Anti-müllerian hormone levels and antral follicle count in women with a BRCA1 or BRCA2 germline pathogenic variant: A retrospective cohort study

Y. Drouet, C. Rousset-Jablonski, N. Chopin, 2021, Breast.

Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility.

Olga Anczuków, D. Thompson, G. Lenoir, 2004, Carcinogenesis.

Estimating cancer risk in HNPCC by the GRL method

H. Perdry, C. Bonaïti‐pellié, Qing Wang, 2007, European Journal of Human Genetics.

Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: reactions and behavior after the disclosure of a positive test result.

J. Saurin, O. Sinilnikova, A. Puisieux, 2002, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

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

D. Stoppa-Lyonnet, A. Chompret, J. Fricker, 2006, European journal of cancer.

[Cancer genetics: estimation of the needs of the population in France for the next ten years].

J. Saurin, C. Bonaïti‐pellié, D. Stoppa-Lyonnet, 2009, Bulletin du cancer.

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

D. Stoppa-Lyonnet, C. Houdayer, C. Faure-Conter, 2018, Pediatric blood & cancer.

[A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition].

H. Perdry, C. Bonaïti‐pellié, D. Stoppa-Lyonnet, 2011, Bulletin du cancer.

A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening

Hervé Perdry, Sophie Pennec, Bernard Bonaïti, 2013, Journal of Medical Genetics.

Estimating penetrance from multiple case families with predisposing mutations: extension of the ‘genotype-restricted likelihood’ (GRL) method

H. Perdry, C. Bonaïti‐pellié, N. Andrieu, 2011, European Journal of Human Genetics.

Familial hematological malignancies: new IDH2 mutation

A. Paci, V. Penard-Lacronique, L. Faivre, 2016, Annals of Hematology.

Abstract P3-03-05: Association between BRCA1 and BRCA2 mutations and survival in breast cancer patients according to molecular subtype

P. Chappuis, O. Trédan, A. Friedlaender, 2018 .

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

C. Lasset, A. Calender, M. Léoné, 2023, Cancers.

Focus group approach for developing written patient information in oncogenetics.

C. Lasset, V. Bonadona, M. Charavel, 2007, Genetic testing.

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

C. Bonaïti‐pellié, D. Stoppa-Lyonnet, A. Chompret, 2008, Journal of Medical Genetics.

[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].

P. Pujol, C. Lasset, P. Berthet, 2018, Bulletin du cancer.

ARLTS1, potential candidate gene in familial aggregation of hematological malignancies.

L. Faivre, H. Sobol, C. Dugast, 2017, Bulletin du cancer.

Estimating cancer risks from a retrospective cohort of patients with MMR gene mutations.

C. Bonaïti‐pellié, J. Fricker, C. Lasset, 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

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

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

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

Sebastian M. Armasu, Jaana M. Hartikainen, A. Whittemore, 2013, Nature Genetics.

Cancer risks associated with germline mutations in MLH1, MSH2 and MSH6 genes in Lynch syndrome: results from the large nationwide French ERISCAM study

C. Bonaïti‐pellié, C. Lasset, V. Bonadona, 2011 .

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

J. Limacher, M. Barrois, A. Chompret, 2008, British Journal of Cancer.