B. Bressac-de Paillerets

发表

2009 version of the Chompret criteria for Li Fraumeni syndrome.

Catherine Bonaïti-Pellié, Dominique Stoppa-Lyonnet, Stéphanie Baert-Desurmont, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Jean-Philippe Vert, Etienne Rouleau, Sophie Krieger, 2012, Human mutation.

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

D. Stoppa-Lyonnet, J. Bénard, A. Chompret, 1998, Human molecular genetics.

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

Jean-Marc Guinebretière, Alain Spatz, G. Lenoir, 2007, Familial Cancer.

Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

S. Richard, C. Ricketts, S. Hodgson, 2008, Clinical 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.

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

S. Richard, W. Kaelin, William Y. Kim, 2014, Cancer research.

Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression.

B. Bressac-de Paillerets, J. Bombled, G. Gualco, 2002, Cancer genetics and cytogenetics.

Real‐time PCR‐based gene dosage assay for detecting BRCA1 rearrangements in breast–ovarian cancer families

I. Bièche, R. Lidereau, S. Mazoyer, 2004, Clinical genetics.

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.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

S. Puig, D. Bishop, D. Elder, 2017, The Journal of investigative dermatology.

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

A. Scope, E. Friedman, C. Marian, 2005, British Journal of Cancer.

Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure.

A. Chompret, L. Briollais, F. Demenais, 2000, International journal of epidemiology.

Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas

S. Michiels, P. Dessen, V. Lazar, 2008, Molecular oncology.

BRAF as a melanoma susceptibility candidate gene?

L. Desjardins, D. Stoppa-Lyonnet, G. Lenoir, 2003, Cancer research.

Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.

S. Richard, G. De Velasco, J. Scoazec, 2021, European journal of cancer.

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

C. Genestie, S. Richard, Y. Allory, 2017, Clinical genetics.

Mutations at BRCA1: the medullary breast carcinoma revisited.

D. Birnbaum, J. Peyrat, D. Stoppa-Lyonnet, 1998, Cancer research.

Selection criteria for genetic assessment of patients with familial melanoma.

A. Halpern, S. Puig, S. Swetter, 2009, Journal of the American Academy of Dermatology.

Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

M. King, Régine Marlin, D. Stoppa-Lyonnet, 2013, Human mutation.

IMPACT OF GENE PATENTS ON THE COST-EFFECTIVE DELIVERY OF CARE: THE CASE OF BRCA1 GENETIC TESTING

D. Stoppa-Lyonnet, J. Moatti, H. Sobol, 2003, International Journal of Technology Assessment in Health Care.

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.

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect

A. Goldstein, T. Frebourg, A. Chompret, 2001, Genes, chromosomes & cancer.

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

J. Struewing, M. Tucker, A. Goldstein, 2000, American journal of human genetics.

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes

L. Desjardins, D. Stoppa-Lyonnet, B. Bressac-de Paillerets, 2000, British Journal of Cancer.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

X. Hua, Jianxin Shi, S. Chanock, 2014, Nature Genetics.

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

S. Richard, A. Baruchel, R. Wenger, 2012, Haematologica.

Genital and anorectal mucosal melanoma is associated with cutaneous melanoma in patients and in families

F. Demenais, B. Bressac-de Paillerets, M. Avril, 2013, The British journal of dermatology.

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.

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.

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.

S. Puig, D. Bishop, D. Elder, 2016, The Journal of investigative dermatology.

The 5′-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding

R. Spitale, A. Inga, A. Bisio, 2015, Oncotarget.

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.

Extensive molecular screening for hereditary non-polyposis colorectal cancer

J. Pignon, P. Rougier, J. Bénard, 2000, British Journal of Cancer.

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

L. Thomas, Pierre Vabres, B. Bressac-de Paillerets, 2016, JAMA dermatology.

Melanoma Risk and Melanocyte Biology

E. Steingrímsson, L. Larue, B. Bressac-de Paillerets, 2020, Acta dermato-venereologica.

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

S. Puig, C. Begg, S. Gruber, 2019, The Lancet. Child & adolescent health.

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.

Activating point mutations in cyclin-dependent kinase 4 are not seen in sporadic pituitary adenomas, insulinomas or Leydig cell tumours.

M. Korbonits, A. Grossman, B. Kola, 2003, The Journal of endocrinology.

Melanocortin-1 Receptor (MC1R) Gene Variants and Dysplastic Nevi Modify Penetrance of CDKN2A Mutations in French Melanoma-Prone Pedigrees

A. Chompret, F. Demenais, B. Bressac-de Paillerets, 2005, Cancer Epidemiology Biomarkers & Prevention.

[Li-Fraumeni syndrome: update, new data and guidelines for clinical management].

O. Delattre, D. Frappaz, C. Bonaiti-Pellié, 2001, Bulletin du cancer.

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.

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

M. Schlumberger, P. Beck‐Peccoz, L. Persani, 2010, European journal of endocrinology.

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome

N. Janin, B. Bressac-de Paillerets, O. Cabaret, 2015, Acta Neuropathologica.

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

S. Puig, E. Gillanders, D. Bishop, 2006, Cancer research.

Contribution of CDKN2A/P16INK4A, P14ARF, CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2010, Familial Cancer.

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

P. Varlet, O. Delattre, S. Puget, 2018, Neuro-oncology.

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome

I. Winship, B. Bressac-de Paillerets, M. Guillaud-Bataille, 2015, Familial Cancer.

High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.

P. Varlet, O. Delattre, S. Puget, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Senescent cells develop a PARP-1 and nuclear factor-{kappa}B-associated secretome (PNAS).

K. Bille, C. Bertolotto, R. Ballotti, 2011, Genes & Development.

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

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

[Discovery of a new gene frequently inactivated in human cancers: protein p16, a cell cycle regulator].

B. Bressac-de Paillerets, 1994, Bulletin du cancer.

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

S. Puig, D. Bishop, V. Quesada, 2019, JAMA dermatology.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Jianxin Shi, Florence Demenais, Maria Teresa Landi, 2014, Nature Genetics.

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

L. Thomas, N. Hayward, M. Tucker, 2013, Journal of Medical Genetics.

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

Florence Demenais, Johan Hansson, Paola Ghiorzo, 2002, Journal of the National Cancer Institute.

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

M. Tucker, A. Goldstein, G. Peters, 2005, Journal of Medical Genetics.

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

Dieter Niederacher, Ute Hamann, Alfons Meindl, 2008, American journal of human genetics.

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.

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

P. Brennan, D. Bacq, A. Boland, 2021, Cancers.

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Geoffrey S. Tobias, K. Nielsen, J. Malvehy, 2017, Nature Communications.

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

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

Localization of a novel melanoma susceptibility locus to 1p22.

E. Gillanders, J. Trent, G. Mann, 2003, American journal of human genetics.

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome

I. Winship, B. Bressac-de Paillerets, M. Guillaud-Bataille, 2014, Familial Cancer.

Germline BAP1 mutations predispose to renal cell carcinomas.

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

Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

P. Rougier, J. Sabourin, P. Lasser, 1998, British Journal of Cancer.

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

L. Thomas, L. Desjardins, P. Bahadoran, 2015, Annales de dermatologie et de venereologie.

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

C. Bonaïti‐pellié, C. Bonaiti-Pellié, D. Stoppa-Lyonnet, 2005, Journal of Medical Genetics.

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.

Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients.

V. Lazar, B. Bressac-de Paillerets, D. Bellet, 1994, Human molecular genetics.

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 variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Mads Thomassen, Nina Ditsch, Dieter Niederacher, 2009, Human molecular genetics.

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..

Is systemic disease in the coelomic epithelium associated with BRCA1 germline mutations?

P. Morice, S. Delaloge, B. Bressac-de Paillerets, 2004, Journal of the National Cancer Institute.

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.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

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.

Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

S. Puig, E. Gillanders, D. Elder, 2010, Journal of the National Cancer Institute.

Genomic stability and wild-type p53 function of lymphoblastoid cells with germ-line p53 mutation.

M. Ozturk, C. Moyret-Lalle, Q. Wang, 1995, Oncogene.

Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3

L. Thomas, B. Bressac-de Paillerets, O. Ingster, 2017, JAMA dermatology.

The CDKN2A/p16INK4a 5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

P. Queirolo, R. Spitale, A. Inga, 2016, Pigment cell & melanoma research.

Diversity of the clinical presentation of the MMR gene biallelic mutations

T. Frebourg, S. Vasseur, E. Bouvignies, 2014, Familial Cancer.

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.

P. Terrier, G. Lenoir, T. Tursz, 2004, Gastroenterology.

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

L. Thomas, S. Dalle, Pierre Vabres, 2012, Journal of the American Academy of Dermatology.

Germline BAP1 mutations predispose also to multiple basal cell carcinomas

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

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

P. Galan, N. Bouatia-Naji, M. Schlumberger, 2016, The Journal of clinical endocrinology and metabolism.

Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

A. Chompret, F. Demenais, B. Bressac-de Paillerets, 2004, Journal of the National Cancer Institute.

Genetic testing for melanoma.

S. Puig, D. Elder, N. Hayward, 2002, The Lancet. Oncology.

Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1‐expression: A pilot study

B. Bressac-de Paillerets, N. Soufir, O. Cabaret, 2017, Genes, chromosomes & cancer.

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.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

p53 status does not predict initial clinical response to bacillus Calmette-Guerin intravesical therapy in T1 bladder tumors.

W. Fridman, V. Lazar, V. Molinie, 1998, The Journal of urology.

Tracking of second primary melanomas in vemurafenib-treated patients.

A. Marghoob, L. Thomas, M. Mihm, 2013, JAMA dermatology.

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.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

S. Richard, M. Crépin, B. Bressac-de Paillerets, 2019, The Journal of molecular diagnostics : JMD.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

The 5′-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding

R. Spitale, A. Inga, V. Andreotti, 2015, Oncotarget.

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

S. Richard, W. Kaelin, William Y. Kim, 2014, Cancer research.