I. Coupier

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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

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

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

Association of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) and malignant melanoma in two patients.

B. Guillot, I. Coupier, N. Kluger, 2007, Melanoma research.

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

D. Papadopoulo, D. Stoppa-Lyonnet, I. Coupier, 2004, Oncogene.

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.

Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA 1 / 2 Carriers

D. Stoppa-Lyonnet, P. Pujol, J. Fricker, 2015 .

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

J. Benítez, R. Eeles, A. Spurdle, 2009, British Journal of Cancer.

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

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

Is BRCA1/BRCA2‐related breast carcinogenesis estrogen dependent?

P. Pujol, I. Coupier, Mehadad Noruzinia, 2005, Cancer.

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.

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families

M. Ychou, M. Picot, P. Taourel, 2021, Genes.

Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

G. Chatellier, A. Hernigou, V. Rohmer, 2013, The Journal of clinical endocrinology and metabolism.

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

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

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

D. Stoppa-Lyonnet, O. Sinilnikova, S. Mazoyer, 2016, European Journal of Human Genetics.

[Having a child and PND/PGD access in women with a BRCA1/2 mutation? Different approach whether ill or healthy].

L. Huiart, C. Julian‐Reynier, C. Noguès, 2014, Bulletin du cancer.

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

M. Klinger, A. Aurias, D. Stoppa-Lyonnet, 2002, Journal of medical genetics.

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.

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

K. Dahan, D. Stoppa-Lyonnet, B. Gilbert-Dussardier, 2017, Carcinogenesis.

Conditional Probability of Survival and Prognostic Factors in Long-Term Survivors of High-Grade Serous Ovarian Cancer

P. Colombo, P. Rouanet, J. Solassol, 2020, Cancers.

[Cowden syndrome, or multiple hamartomatous tumor syndrome, in clinical endocrinology].

E. Renard, J. Bringer, I. Coupier, 2010, Annales d'endocrinologie.

[Cowden syndrome, or multiple hamartomatous tumor syndrome, in clinical endocrinology].

E. Renard, J. Bringer, I. Raingeard, 2010, Annales d'endocrinologie.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

N. André, O. Delattre, D. Evans, 2011, Clinical Cancer Research.

[Genetic predisposition to childhood cancer].

I. Coupier, M. Gauthier‐Villars, C. Abadie, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

I. Coupier, C. Abadie, I. Netchine, 2010, European journal of medical genetics.

TO JMG Bar code screening on combed DNA for large rearrangements of the BRCA 1 and BRCA 2 genes in French breast cancer families

M. Klinger, A. Aurias, A. Bensimon, 2002 .

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.

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study

J. Saurin, J. Fricker, L. Faivre, 2019, Diseases of the colon and rectum.

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

F. Coulet, M. Eyries, F. Soubrier, 2018, Gastric Cancer.

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

A. Vénisse, X. Jeunemaître, J. Bertherat, 2009, The Journal of clinical endocrinology and metabolism.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

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.

Structural and numerical aberrations of chromosome 22 in a case of follicular variant of papillary thyroid carcinoma revealed by conventional and molecular cytogenetics.

F. Penault-Llorca, M. D. De Latour, I. Coupier, 2000, Cancer genetics and cytogenetics.

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

J. Simard, D. Yannoukakos, J. Peyrat, 2005, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

Common BRCA 2 Variants and Modification of Breast and Ovarian Cancer Risk in BRCA 1 Mutation Carriers

J. Simard, D. Yannoukakos, J. Peyrat, 2005 .

ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

M. Kool, S. Julia, D. Figarella-Branger, 2018, Acta Neuropathologica.

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

D. Stoppa-Lyonnet, L. Faivre, A. Bouhnik, 2012, Genetics in Medicine.

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

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

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

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

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

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

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

V. Pankratz, F. Couch, B. Bonanni, 2012, British Journal of Cancer.

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

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

J. Rivière, R. Boidot, L. Faivre, 2023, Oncotarget.

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.

AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study

R. Vierkant, T. Sellers, V. Pankratz, 2007, Cancer Epidemiology Biomarkers & Prevention.

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

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

High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome

C. Lázaro, G. Capellá, D. Planchard, 2020 .

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

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.

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.

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.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Katherine M. Tucker, W. Chung, R. Nussbaum, 2018, Journal of the National Cancer Institute.

BAP1 and Breast Cancer Risk

Alexandra Trehin, D. Stoppa-Lyonnet, O. Sinilnikova, 2005, Familial Cancer.

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

A. Aurias, D. Stoppa-Lyonnet, P. Pujol, 2002, Oncogene.

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

D. Stoppa-Lyonnet, D. Orbach, M. Miettinen, 2021, Journal of Medical Genetics.

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

J. Barrett, G. Mann, P. Terrier, 2017, Journal of Medical Genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

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.

Birt–Hogg–Dubé syndrome: clinical and genetic studies of 10 French families

S. Richard, M. Avril, B. Guillot, 2010, The British journal of dermatology.

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.

A family with two cases of melanocytic tumors and fragile X syndrome

B. Guillot, I. Coupier, C. Lesage, 2017, Melanoma research.

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours

Z. Herceg, T. Frebourg, C. Férec, 2013, European Journal of Human Genetics.

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

J. Lemonnier, N. Sevenet, D. Stoppa-Lyonnet, 2021, Cancers.

Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)

R. Lidereau, D. Stoppa-Lyonnet, J. Fricker, 2011, 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.

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

Christiana Kartsonaki, Mads Thomassen, Etienne Rouleau, 2011, Human molecular genetics.

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.

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..

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

S. Richard, O. Cussenot, A. Cambon-Thomsen, 2018, European Journal of Human Genetics.

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

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

[Infant rhabdoid tumors: a diagnostic emergency].

T. Roujeau, I. Coupier, N. Sirvent, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations

M. Picot, J. Solassol, P. Pujol, 2019, Psycho-oncology.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

S. Richard, O. Cussenot, A. Cambon-Thomsen, 2018, European Journal of Human Genetics.

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.

Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene

V. Gaborieau, D. Yannoukakos, J. Peyrat, 2005, International journal of cancer.

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

A. Tabarin, J. Bertherat, P. Herman, 2016, Journal of Medical Genetics.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

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.

An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma.

P. Raynaud, P. Pujol, R. Garrel, 2009, The Journal of laryngology and otology.

How Can Contingent Valuation Inform the Bioethics Debate? Evidence from a Survey on Hereditary Cancers in France

O. Chanel, C. Protière, E. Mouret‐Fourme, 2017 .

Is There a Demand for PGD and/or PND Among Healthy BRCA1/2 Carriers at a Reproductive Age? A Contingent Valuation Survey.

D. Stoppa-Lyonnet, C. Protière, E. Mouret‐Fourme, 2014 .

Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women

D. Khayat, M. Picot, P. Pujol, 2017, Breast Cancer Research and Treatment.

Brief report: High prevalence of somatic oncogenic driver alterations in non-small cell lung cancer patients with Li-Fraumeni Syndrome.

C. Lázaro, G. Capellá, D. Planchard, 2020, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

A germline mutation in PBRM1 predisposes to renal cell carcinoma

S. Richard, B. Teh, B. Gilbert-Dussardier, 2015, Journal of Medical Genetics.

Links between gender norms and the intergenerational transmission of health information in parents carrying BRCA1/2 pathogenic variants.

J. Mancini, A. Bouhnik, C. Noguès, 2023, Journal of genetic counseling.

Letter to the editor: Pregnancy and von Hippel-Lindau disease.

S. Richard, R. Giles, M. V. van Pampus, 2013, Journal of neurosurgery.

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service.

M. Claustres, I. Coupier, S. Hamamah, 2017, Reproductive biomedicine online.

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.

Deletion of Chromosomes 13q and 14q Is a Common Feature of Tumors with BRCA2 Mutations

Gaëtan MacGrogan, Aurélien de Reyniès, E. Letouzé, 2012, PloS one.