S. Giraud

J. Simard, D. Yannoukakos, J. Peyrat, 2003, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

BRCA 1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA 1 GermLine Mutations 1

J. Simard, D. Yannoukakos, J. Peyrat, 2003 .

A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.

P. Caron, M. Crépin, J. Wemeau, 1999, The Journal of clinical endocrinology and metabolism.

Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.

J. Saurin, E. Decullier, V. Cottin, 2007, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Alain Calender, Laurence Faivre, E. Babin, 2006, Human mutation.

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

J. Saurin, B. Gilbert-Dussardier, E. Decullier, 2020, Orphanet Journal of Rare Diseases.

Functional analysis of the BMP 9 response of ALK 1 mutants from HHT 2 patients : a diagnostic tool for novel ACVRL 1 mutations

G. Lesca, S. Giraud, S. Bailly, 2010 .

STROKE FOLLOWING PULMONARY ARTERIOVENOUS FISTULA EMBOLIZATION IN A PATIENT WITH HHT

M. Montaudon, I. Sibon, C. Goizet, 2008, Neurology.

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study

S. Richard, J. Correas, D. Chauveau, 2014, Orphanet Journal of Rare Diseases.

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis: A Report of Three Cases

D. Hohl, F. Fellmann, S. Giraud, 2013, The American Journal of dermatopathology.

A new locus‐specific database (LSDB) for mutations in the folliculin (FLCN) gene

S. Richard, M. Nahorski, E. Maher, 2010, Human mutation.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2007, British Journal of Cancer.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2007, British Journal of Cancer.

A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt–Hogg–Dubé syndrome

S. Richard, S. Giraud, D. Bessis, 2006, The British journal of dermatology.

Clinical and genetic studies of Birt-Hogg-Dubé syndrome

S. Richard, B. Teh, S. Khoo, 2002, Journal of medical genetics.

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.

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

S. Richard, C. Eng, H. Neumann, 2009, The Journal of clinical endocrinology and metabolism.

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

V. Rohmer, S. Pinson, A. Barlier, 2017, Thyroid : official journal of the American Thyroid Association.

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.

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.

Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease

S. Richard, C. Béroud, P. David, 2000, Neurosurgical Review.

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output.

J. Saurin, B. Gilbert-Dussardier, E. Decullier, 2012, JAMA.

Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics.

G. Alessio, L. Gesualdo, S. Guerriero, 2019, Journal of neurosurgical sciences.

One-year progression-free survival of therapy-naive patients with malignant pheochromocytoma and paraganglioma.

A. Tabarin, E. Baudin, Jacques Young, 2013, The Journal of clinical endocrinology and metabolism.

Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease

S. Richard, B. Teh, P. Dessen, 2018, International journal of oncology.

Endocrine Pancreatic Tumors in von Hippel-Lindau Disease: Clinical, Histological, and Genetic Features

S. Richard, E. Baudin, A. Sauvanet, 2008, Pancreas.

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.

Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

W. V. D. Van de Ven, R. Thakker, G. Carle, 1997, Genomics.

A SDHB malignant paraganglioma with dramatic response to temozolomide-capecitabine.

J. Scoazec, C. Lombard-Bohas, F. Borson‐Chazot, 2012, European journal of endocrinology.

Hibernoma and multiple endocrine neoplasia type 1 syndrome: A non-fortuitous association? A case report and literature review.

F. Cotton, C. Thivolet, S. Giraud, 2017, Annales d'endocrinologie.

[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].

A. Calender, S. Giraud, G. Devouassoux, 2011, Revue des maladies respiratoires.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2006, British Journal of Cancer.

Familial non-VHL non-papillary clear-cell renal cancer

C. Larsson, B. Teh, D. Nicol, 1997, The Lancet.

Screening of a large cohort of asymptomatic SDHx mutation carriers in routine practice.

E. Baudin, J. Bertherat, F. Borson‐Chazot, 2020, The Journal of clinical endocrinology and metabolism.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

M. Vidaud, C. Houdayer, D. Vidaud, 1998, American journal of medical genetics.

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.

Genetic testing in pheochromocytoma or functional paraganglioma.

S. Richard, E. Baudin, X. Jeunemaître, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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.

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

S. Richard, P. Dahia, A. Barlier, 2020, Journal of Medical Genetics.

Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1

C. Larsson, N. Hayward, B. Teh, 1995, Journal of internal medicine.

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

V. Hervieu, P. Ruszniewski, F. Borson‐Chazot, 2014, Annales d'endocrinologie.

Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.

V. Rohmer, F. Savagner, S. Bézieau, 2001, The Journal of clinical endocrinology and metabolism.

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.

Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1).

B. Teh, S. Giraud, J. Khoo, 2012, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

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 .

Coexpression of erythropoietin and erythropoietin receptor in von Hippel-Lindau disease-associated renal cysts and renal cell carcinoma.

A. Vortmeyer, W. Linehan, S. Richard, 2005, Clinical cancer research : an official journal of the American Association for Cancer Research.

Vitreoretinal surgery for severe retinal capillary hemangiomas in von hippel-lindau disease.

S. Richard, P. Massin, V. Krivosic, 2011, Ophthalmology.

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation.

B. Teh, A. Jouvet, A. Calender, 1997, The Journal of clinical endocrinology and metabolism.

Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry

S. Richard, C. Eng, T. Krauss, 2016, Head & neck.

Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report

S. Richard, S. Giraud, S. Gaillard, 2010, Acta Neurochirurgica.

Natural History of Supratentorial Hemangioblastomas in von Hippel‐Lindau Disease

S. Richard, C. Lacroix, P. David, 2010, Neurosurgery.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

J. Honnorat, J. Saurin, E. Buscarini, 2007, Genetics in Medicine.

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

S. Giraud, S. Dupuis-Girod, S. Bailly, 2015, Human molecular genetics.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

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.

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

D. Steinemann, F. Couch, B. Bonanni, 2016, PloS one.

Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants

C. Béroud, E. Pasmant, N. Lévy, 2019, Human mutation.

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

C. Béroud, E. Pasmant, A. Barlier, 2018, The Journal of clinical endocrinology and metabolism.

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.

P. Chanson, A. Tabarin, E. Baudin, 2015, European journal of endocrinology.

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.

P. Chanson, A. Tabarin, E. Baudin, 2013, Human molecular genetics.

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

P. Chanson, Y. Shugart, G. Lenoir, 1998, American journal of human genetics.

Multiple endocrine neoplasia type 1 in France: clinical and genetic studies

P. Chanson, G. Lenoir, C. Proye, 1995, Journal of internal medicine.

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.

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.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Peter Devilee, Alfons Meindl, Lesley McGuffog, 2010, Breast Cancer Research.

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.

Somatic MMR Gene Mutations as a Cause for MSI‐H Sebaceous Neoplasms in Muir–Torre Syndrome‐Like Patients

J. Saurin, C. Audoynaud, Qing Wang, 2015, Human mutation.

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.

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

E. Bonora, M. Colombel, V. Lazar, 2008, Human molecular genetics.

Supratentorial Hemangioblastoma in the Neonatal Period

S. Richard, P. Varlet, S. Puget, 2009, Pediatric Neurosurgery.

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

C. Larsson, N. Hayward, B. Teh, 1997, Human molecular genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

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

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

The growing family of hereditary renal cell carcinoma.

S. Richard, R. Lidereau, S. Giraud, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Germline mutation profile of the VHL gene in von Hippel‐Lindau disease and in sporadic hemangioblastoma

G. Thomas, S. Richard, P. Laurent-Puig, 1998, Human mutation.

Birt-Hogg-Dubé syndrome: diagnosis and management.

S. Richard, M. Nordenskjöld, E. Maher, 2009, The Lancet. Oncology.

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.

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Ximing J. Yang, Karl J. Dykema, S. Richard, 2010, BMC Medical Genomics.

Genomic expression and single-nucleotide polymorphism profiling discriminates chromophobe renal cell carcinoma and oncocytoma

Ximing J. Yang, P. Tan, S. Richard, 2010, BMC Cancer.

Inactivation of BHD in sporadic renal tumors.

S. Richard, B. Teh, S. Khoo, 2003, Cancer research.

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.

Molecular characterization of germline NF2 gene rearrangements.

F. Sor, L. Cazes, J. Zucman‐Rossi, 2000, Genomics.

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.

Inactivation of BHD in Sporadic Renal Tumors 1

S. Richard, B. Teh, S. Khoo, 2003 .

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..

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

D. Khayat, R. Lidereau, M. Picot, 2013, Breast Cancer Research and Treatment.

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.

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

F. Couch, T. Rebbeck, J. Benítez, 2011, Human molecular genetics.

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants

M. Vikkula, D. Lipsker, P. Magro, 2023, Journal of Medical Genetics.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

S. Pinson, F. Coulet, F. Soubrier, 2004, Human mutation.

NF2 gene in neurofibromatosis type 2 patients.

F. Sor, G. Thomas, L. Cazes, 1998, Human molecular genetics.

[Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].

S. Richard, C. Béroud, D. Joly, 1998, Presse medicale.

Germline mutations in BMP9 are not identified in a series of Danish and French patients with hereditary hemorrhagic telangiectasia

L. Ousager, K. Brusgaard, S. Giraud, 2016 .

[Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].

S. Richard, C. Béroud, E. Baudin, 1998, Annales d'endocrinologie.

[Clinicogenetic study of MEN1: recent physiopathological data and clinical applications. Study Group of Multiple Endocrine Neoplasia (GENEM)].

A. Calender, S. Giraud, N. Porchet, 1998, Annales d'endocrinologie.

Familial acromegaly: a specific clinical entity--further evidence from the genetic study of a three-generation family.

A. Calender, C. Blin, S. Giraud, 1995, European journal of endocrinology.

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.

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Juan Arbelaez, R. Akhurst, C. Hughes, 2012, Nature Communications.

High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia.

M. Lapalus, J. Saurin, D. Moussata, 2010, Gastrointestinal endoscopy.

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.

Genotype–phenotype correlation in von Hippel‐Lindau families with renal lesions

C. Junien, S. Richard, C. Béroud, 2004, Human mutation.

Screening of Mutations in Genes that Predispose to Hereditary Paragangliomas and Pheochromocytomas

F. Borson‐Chazot, L. Brunaud, A. Calender, 2012, Hormone and Metabolic Research.

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.

Endolymphatic Sac Tumors in von Hippel-Lindau Disease: Report of Three Cases

S. Richard, P. Tran Ba Huy, J. Guichard, 2010, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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.

Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

M. McCarthy, C. Larsson, B. Teh, 1997, Human Genetics.

Intracranial ependymoma associated with multiple endocrine neoplasia type 1

A. Calender, S. Giraud, A. Al-Salameh, 2010 .

Genetic testing in presymptomatic diagnosis of multiple endocrine neoplasia.

I. Schuffenecker, A. Calender, S. Giraud, 1997, Hormone Research.

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

G Rennert, N Weerasooriya, K Offit, 2009, British Journal of Cancer.

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.

[Renal and adrenal involvement in von Hippel-Lindau disease: clinical features and therapeutic strategies].

J. Dubernard, S. Giraud, X. Martin, 1996, Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie.

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

S. Richard, P. Massin, C. Béroud, 2002, Investigative ophthalmology & visual science.

Evidence for SMAD 3 as a modifier of breast cancer risk in BRCA 2 mutation carriers

V. Pankratz, F. Couch, T. Rebbeck, 2010 .

[Hereditary multiple endocrine neoplasia. New genetic data and clinical applications in type 1 multiple endocrine neoplasia].

P. Chanson, C. Proye, A. Calender, 1995, Presse medicale.

Value of somatostatin receptor PET/CT in MEN1 patients at various stages of their disease.

M. Haissaguerre, B. Goichot, A. Imperiale, 2021, The Journal of clinical endocrinology and metabolism.

Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

C. Larsson, B. Teh, S. Forbes, 1996, Genomics.

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

J. Saurin, B. Gelas‐Dore, G. Lesca, 2008, Hepatology.

A rare mimic of hereditary hemorrhagic telangiectasia and conjunctivitis.

A. Echaniz-Laguna, C. Tranchant, S. Giraud, 2007, Annals of internal medicine.

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

E. Génin, E. Buscarini, F. Coulet, 2008, European Journal of Human Genetics.

Genetic mutation risk calculation in Lynch syndrome inheritance: Evaluating the utility of the PREMM1,2,6 model in Lyon: The first French study.

A. Calender, S. Giraud, S. Aissaoui, 2017, Bulletin du cancer.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

J. Saurin, J. Limacher, V. Boige, 2022, Digestive Diseases and Sciences.

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

A. Balmain, R. Akhurst, D. Jablons, 2015, Front. Genet..

Association of medullary sponge kidney disease and multiple endocrine neoplasia type IIA due to RET gene mutation: is there a causal relationship?

A. Calender, S. Giraud, B. Diouf, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Intracranial ependymoma associated with multiple endocrine neoplasia type 1.

A. Calender, S. Giraud, L. de Calan, 2010, Journal of endocrinological investigation.

[Neuro-endocrine tumors and von Hippel-Lindau disease. 3 cases].

S. Richard, E. Baudin, M. Schlumberger, 1999, Presse medicale.

[Thymic and bronchial neuroendocrine tumors in multiple endocrine neoplasia type 1. GENEM1].

M. Heymann, B. Dupas, B. Charbonnel, 1997, Presse medicale.

A germline mutation in PBRM1 predisposes to renal cell carcinoma

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

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I

S. Richard, R. Lidereau, D. Stoppa-Lyonnet, 2021, Human mutation.

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.