B. Paillerets

发表

Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

F. Clavel-Chapelon, S. Chanock, G. Thomas, 2012, Nature 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.

Genome-wide association study identifies three loci associated with melanoma risk

J. Malvehy, S. Puig, E. Gillanders, 2009, Nature Genetics.

Genome-wide association study identifies three new melanoma susceptibility loci

Jeffrey E. Lee, J. Malvehy, S. Puig, 2011, Nature Genetics.

Mapping and ranking of potential cytotoxic T epitopes in the p53 protein: effect of mutations and polymorphism on peptide binding to purified and refolded HLA molecules

S. Gnjatic, J. Guillet, B. Paillerets, 1995, European journal of immunology.

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma‐prone families or patients

G. Peters, G. Lenoir, S. Brookes, 2009, Human mutation.

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

J. Malvehy, V. Sobolev, G. Peters, 2003, European Journal of Human Genetics.

Testing for BRCA1 mutations: a cost-effectiveness analysis

D. Stoppa-Lyonnet, J. Moatti, H. Sobol, 2002, European Journal of Human Genetics.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

Association between germ cell tumours, large numbers of naevi, atypical naevi and melanoma

C. Théodore, A. Chompret, F. Demenais, 2001, Melanoma research.

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.

Mutations at BRCAJ: The Medullary Breast Carcinoma Revisited1

D. Birnbaum, J. Peyrat, D. Stoppa-Lyonnet, 2015 .

Primary proliferative T cell response to wild‐type p53 protein in patients with breast cancer

M. Mathieu, V. Lazar, T. Soussi, 1995, European journal of immunology.

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.

MC1R variants in childhood and adolescent melanoma: A pooled-analysis from a large worldwide multicenter cohort of patients

Sera, S. Puig, C. Begg, 2019 .

Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes

M. Barrois, A. Chompret, C. Marian, 2009, Familial Cancer.

Oncolytic Activity of the E 1 B-55 kDa-deleted Adenovirus ONYX-015 Is Independent of Cellular p 53 Status in Human Malignant Glioma Xenografts 1

P. Opolon, B. Geoerger, G. Vassal, 2002 .

Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations

P. Varlet, O. Delattre, J. Grill, 2009, Journal of Medical Genetics.

FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells

C. Bertolotto, R. Ballotti, D. Debayle, 2021, Cell Death & Differentiation.

16 ink 4 a / p 14 arf ) and cdkn 2 b genes in 53 melanoma index cases considered to be at heightened risk of melanoma

M. Tucker, G. Peters, M. Barrois, 2005 .

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

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

P53 germline mutations in childhood cancers and cancer risk for carrier individuals

C. Bonaïti‐pellié, T. Frebourg, A. Chompret, 2000, British Journal of Cancer.

A germline oncogenic MITF mutation and tumor susceptibility.

C. Bertolotto, F. Lesueur, B. Paillerets, 2014, European journal of cell biology.

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

S. Puig, L. Thomas, S. Richard, 2011, Nature.

Characteristics of the coexistence of melanoma and renal cell carcinoma

J. Patard, S. Dalle, F. Demenais, 2010, Cancer.

New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease Complex genetics in VHL disease and erythrocytosis

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

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Ivana K. Kim, S. Puig, N. Hayward, 2018, Journal of the National Cancer Institute.

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

M. Beckmann, T. Sellers, M. Stratton, 2000, American journal of human genetics.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

L. Guerrini-Rousseau, N. Sevenet, T. Frebourg, 2017, Journal of Medical Genetics.

Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families

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

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.

Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene

T. Frebourg, A. Chompret, G. Bougeard, 2003, Oncogene.

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Dominique Vaur, Izabela Karbassi, 2016, Human mutation.

Gastrontestinal stromal tumor and carney's triad

E. Raymond, B. Paillerets, A. Spatz, 2004 .

Resistance of MCF7 human breast carcinoma cells to TNF-induced cell death is associated with loss of p53 function

C. Moyret-Lalle, S. Chouaib, A. Larsen, 1997, Oncogene.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

P. Gregersen, M. King, C. Greenwood, 2002, American journal of human genetics.

Overexpression of MDM2, due to enhanced translation, results in inactivation of wild-type p53 in Burkitt's lymphoma cells

T. Tursz, B. Paillerets, J. Feunteun, 1998, Oncogene.

Relationship between genome and epigenome - challenges and requirements for future research

Magnus Rattray, Xavier Estivill, Ana Conesa, 2014, BMC Genomics.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

M. King, W. Foulkes, C. Lázaro, 2011, Breast Cancer Research and Treatment.

p53 STATUS DOES NOT PREDICT INITIAL CLINICAL RESPONSE TO BLADDER TUMORS BACILLUS CALMETTE-GUERIN INTRAVESICAL THERAPY IN T1

W. Fridman, V. Lazar, V. Molinie, 1998 .

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

I. Bièche, A. Aurias, R. Lidereau, 2003, Human mutation.

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

S. Puig, D. Bishop, D. Elder, 2019, Journal of the American Academy of Dermatology.

BRCA1 germ-line mutation: Predictive of sensitivity to anthracyclin alkylating agents regimens but not to taxanes?

F. André, F. Bidard, M. Spielmann, 2008 .

eMelanoBase: An online locus‐specific variant database for familial melanoma

G. Mann, N. Hayward, T. Becker, 2003, Human mutation.

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

P. Queirolo, V. Andreotti, M. Tibiletti, 2013, Pigment cell & melanoma research.

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

S. Puig, L. Thomas, S. Richard, 2015, Nature.

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.

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.

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

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

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.

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.

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.

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.

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.

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Jeffrey E. Lee, S. Puig, K. Brown, 2011, Nature Genetics.

Mutations at BRCA1: the medullary breast carcinoma revisited.

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

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.

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.

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.

Localization of a novel melanoma susceptibility locus to 1p22.

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

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, David Evans, 2017 .

Extensive molecular screening for hereditary non-polyposis colorectal cancer

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

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.

A germline oncogenic MITF mutation and tumor susceptibility.

C. Bertolotto, F. Lesueur, B. Paillerets, 2014, European journal of cell biology.

Characteristics of the coexistence of melanoma and renal cell carcinoma

J. Patard, S. Dalle, F. Demenais, 2010, 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.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

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

F. Couch, B. Bonanni, J. Benítez, 2009, Human molecular genetics.

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.

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.

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 mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors.

S. Richard, B. Job, N. Droin, 2021, Cancer 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.